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Chromosome deletions in 13q33–34: Report of four patients and review of the literature

article

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

artículo científico publicado en 2017

Co-occurrence of Jalili syndrome and muscular overgrowth.

artículo científico publicado en 2017

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion

artículo científico publicado en 2020

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

artículo científico publicado en 2020

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

artículo científico publicado en 2020

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

artículo científico publicado en 2010

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

artículo científico publicado en 2014

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review

artículo científico publicado en 2020

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate Diagnosis

artículo científico publicado en 2022

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

artículo científico publicado en 2017

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner

artículo científico publicado en 2020

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35

scientific article published on 17 August 2020

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

scientific article published on 11 November 2020

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

scientific article published on 03 February 2020

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