Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients

Abstract Skeletal dysplasias (SDs) are a broad and heterogeneous group of genetic disorders primarily affecting bone and collagen development. Diastrophic dysplasia (DTD) is a rare autosomal recessive chondrodysplasia caused by biallelic variants in the SLC26A2 gene. The current study aims to assess...

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Autors principals:	Miral M. Refeat, Rasha M. Elhossini, Heba Amin Hassan, Mona S. Aglan, Alice Abdelaleem, Mona L. Essawi
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2025-10-01
Col·lecció:	Scientific Reports
Matèries:	Skeletal dysplasias Diastrophic dysplasia SLC26A2 Novel variants Exome sequencing
Accés en línia:	https://doi.org/10.1038/s41598-025-22794-6
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