Article
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani family.
Congenital anomalies - 1 Sept 2021
Ullah Ikram, Aamir Muhammad, Ilyas Muhammad, Ahmed Akmal, Jelani Musharraf, Ullah Wahid, Abbas Muhammad, Ishfaq Muhammad, Ali Fawad, Yip Janice, Efthymiou Stephanie, Ahmed Habib, Houlden Henry
Abstract excerpt
The Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders. Common features of EDS include skin hyperextensibility, articular hypermobility, and tissue fragility. It is classified into 13 subtypes, caused by variations of more than 19 different genes. Among these two subtypes, EDS musculocontractural type 1 (EDSMC1/mcEDS-CHST14; MIM# 601776) is caused by biallelic mutations in the CHST14...
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