Lista de obras -

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

artículo científico publicado en 1998

4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome

artículo científico publicado en 1997

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

artículo científico publicado en 2020

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

scientific article published on 01 September 2000

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere

scientific journal article

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases

artículo científico publicado en 1999

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

artículo científico publicado en 2016

ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

scientific article published on 01 May 2020

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

scientific article published on 01 September 2007

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure

article

Adult hypophosphatasia treated with teriparatide

artículo científico publicado en 2007

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

artículo científico publicado en 2016

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

artículo científico publicado en 2008

Bisphosphonate-induced osteopetrosis

artículo científico publicado en 2003

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

scientific article published on 28 August 2019

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family

artículo científico publicado en 2010

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

artículo científico publicado en 2011

CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

artículo científico publicado en 2014

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand ⬇️

artículo científico publicado el 1 de mayo de 2011

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

artículo científico publicado en 2009

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

artículo científico publicado en 2008

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V

scientific article published on 24 December 2020

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

artículo científico publicado en 2015

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

artículo científico publicado en 2007

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

artículo científico publicado en 2002

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

artículo científico publicado en 2010

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

artículo científico publicado en 2020

Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density

artículo científico publicado en 2004

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density

artículo científico publicado en 2009

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

artículo científico publicado en 2010

Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region

artículo científico publicado en 1999

Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution

artículo científico publicado en 1997

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

artículo científico publicado en 1997

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G &gt; C, p.G325A) in ACVR1 ⬇️

artículo científico publicado el 1 de marzo de 2012

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

scientific article published on 18 March 2020

Heritable disorders of the RANKL/OPG/RANK signaling pathway

artículo científico publicado en 2004

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

artículo científico publicado en 2020

High-bone-mass disease and LRP5.

artículo científico publicado en 2004

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

artículo científico publicado en 2006

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

artículo científico publicado en 2020

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) ⬇️

artículo científico publicado el 1 de octubre de 2011

Hypophosphatasia: molecular diagnosis of Rathbun's original case

artículo científico publicado en 2001

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

artículo científico publicado en 2015

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

scientific article published on 13 December 2019

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus

artículo científico publicado en 1998

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus

artículo científico publicado en 2016

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

artículo científico publicado en 2004

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

artículo científico publicado en 2007

Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

artículo científico publicado en 1999

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

scientific article published on 13 April 2020

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation ⬇️

artículo científico publicado el 1 de junio de 2013

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

artículo científico publicado en 2014

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

artículo científico publicado en 2007

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia

artículo científico publicado en 2010

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

artículo científico publicado en 2015

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27

artículo científico publicado en 1998

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

artículo científico publicado en 2006

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation.

artículo científico publicado en 2019

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

artículo científico publicado en 2006

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

artículo científico publicado en 2005

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

artículo científico publicado en 1992

Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2.

artículo científico publicado en 1999

Marrow cell transplantation for infantile hypophosphatasia

artículo científico publicado en 2003

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

artículo científico publicado en 2017

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

artículo científico publicado en 2014

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

scientific article published on 14 July 2015

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

artículo científico publicado en 2004

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

scientific article published on 11 May 2019

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

scientific article published on 28 February 2019

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)

artículo científico publicado en 2021

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

artículo científico publicado en 2004

Osteoprotegerin deficiency and juvenile Paget's disease

artículo científico publicado en 2002

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

artículo científico publicado en 2015

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK ⬇️

artículo científico publicado el 1 de abril de 2014

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

artículo científico publicado en 2020

Pregnancy-Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor-Related Protein 5 (LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism ⬇️

artículo científico publicado el 1 de abril de 2014

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin ⬇️

artículo científico publicado el 1 de diciembre de 2001

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

artículo científico publicado en 2007

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

artículo científico publicado en 2016

Rapid skeletal turnover in a radiographic mimic of osteopetrosis.

artículo científico publicado en 2014

Refined genetic mapping of X-linked thoracoabdominal syndrome

scientific article published on 01 February 1996

Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

scientific article published on 10 June 2015

Response to: A Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis

article

SOX3 gene maps near DXS984 in Xq27.1, within candidate regions for several X-linked disorders ⬇️

artículo científico publicado el 31 de octubre de 1997

Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review

scientific article published on 02 August 2018

Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy ⬇️

artículo científico publicado el 1 de febrero de 2013

Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.

artículo científico publicado en 2016

Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?

artículo científico publicado en 2005

Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects

artículo científico publicado en 2007

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density

artículo científico publicado en 2008

The sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and contains a non-canonical splice site

artículo científico publicado en 2001

Transcription map of Xq27: candidates for several X-linked diseases

artículo científico publicado en 1999

Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis

artículo científico publicado en 2018

WITHDRAWN: Familial Degenerative Encephalopathy with Intracranial Calcification and Metaphyseal Dysplasia

retracted scientific article published on 18 November 2008

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

artículo científico publicado en 2012

X chromosome map at 75-kb STS resolution, revealing extremes of recombination and GC content

artículo científico publicado en 1997

X-Linked Hypophosphatemia: Uniquely Mild Disease Associated With PHEX 3'-UTR Mutation c.*231A>G (A Retrospective Case-Control Study)

scientific article published on 07 January 2020

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes

scientific article published on 01 August 2001

YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter

artículo científico publicado en 1996

YAC/STS map of 9 Mb of Xq26 at 100-kb resolution, localizing 6 ESTs, 6 genes, and 32 genetic markers

artículo científico publicado en 1996

ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology

artículo científico publicado en 2020

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

artículo científico publicado en 1997

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia ⬇️

artículo científico publicado el 1 de mayo de 2012

Lista de obras de

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

ATRAID regulates the action of nitrogen-containing bisphosphonates on bone

Absence of MMP2 mutation in idiopathic multicentric osteolysis with nephropathy

Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure

Adult hypophosphatasia treated with teriparatide

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement

Bisphosphonate-induced osteopetrosis

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

CYP1A1: Ethnic and Population Differences in Allelic Frequencies and Interpretation of Bone Biology Studies

Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand ⬇️

Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

Coalescing Expansile Skeletal Disease: Delineation Of An Extraordinary Osteopathy Involving The IFITM5 Mutation Of Osteogenesis Imperfecta Type V

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9.

Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia

Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review.

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK

Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density

Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density

Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders

Evolution of the X-specific block embedded in the human Xq21.3/Yp11.1 homology region

Evolutionary features of the 4-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution

Expression and cloning of the human X-linked hypophosphatemia gene cDNA

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G &amp;gt; C, p.G325A) in ACVR1 ⬇️

Healing of vitamin D deficiency rickets complicating hypophosphatasia suggests a role beyond circulating mineral sufficiency for vitamin D in musculoskeletal health

Heritable disorders of the RANKL/OPG/RANK signaling pathway

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

High-bone-mass disease and LRP5.

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review) ⬇️

Hypophosphatasia: molecular diagnosis of Rathbun's original case

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus

Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

Integrated STS/YAC physical, genetic, and transcript map of human Xq21.3 to q23/q24 (DXS1203-DXS1059).

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor Sp7)

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation ⬇️

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

Lack of sustained response to teriparatide in a patient with adult hypophosphatasia

Lenz-Majewski hyperostotic dwarfism with hyperphosphoserinuria from a novel mutation in PTDSS1 encoding phosphatidylserine synthase 1.

Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation.

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts

Mapping of the MYCL2 processed gene to Xq22-23 and identification of an additional L MYC-related sequence in Xq27.2.

Marrow cell transplantation for infantile hypophosphatasia

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

Neonatal High Bone Mass With First Mutation of the NF-κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65).

Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia

Non-Endemic Skeletal Fluorosis: Causes And Associated Secondary Hyperparathyroidism (Case Report and Literature Review)

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

Osteoprotegerin deficiency and juvenile Paget's disease

PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK ⬇️

Persistent idiopathic hyperphosphatasemia from bone alkaline phosphatase in a healthy boy

Pregnancy-Associated Osteoporosis With a Heterozygous Deactivating LDL Receptor-Related Protein 5 (LRP5) Mutation and a Homozygous Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism ⬇️

Preonset Studies of Spondyloepiphyseal Dysplasia Tarda Caused by a Novel 2-Base Pair Deletion in SEDL Encoding Sedlin ⬇️

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

Fibrodysplasia ossificans progressiva: Middle-age onset of heterotopic ossification from a unique missense mutation (c.974G > C, p.G325A) in ACVR1 ⬇️