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A Novel Homozygous Missense Mutation in the Zinc Finger DNA Binding Domain of GLI1 Causes Recessive Post-Axial Polydactyly

publication published on 15 October 2021

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly

scientific article published on 08 January 2019

Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability

publication published on 28 April 2022

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

scientific article published on 01 September 2020

First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.

artículo científico publicado en 2017

Homozygous XYLT2 variants as a cause of spondyloocular syndrome

artículo científico publicado en 2017

Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

artículo científico publicado en 2020

Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

artículo científico publicado en 2021

Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia

artículo científico publicado en 2018

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

artículo científico publicado en 2019

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants

scientific article published on 31 August 2020

Variants in the <i>PNPLA1</i> Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance

artículo científico publicado en 2021

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb

scientific article published on 22 April 2019

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