Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)

• Main Authors: Muhammad Umair (Author), Amjad Khan (Author), Amir Hayat (Author), Safdar Abbas (Author), Abdulaziz Asiri (Author), Muhammad Younus (Author), Wajid Amin (Author), Shoaib Nawaz (Author), Shazia Khan (Author), Erum Malik (Author), Majid Alfadhel (Author), Farooq Ahmad (Author)
• Format: Bog
• Udgivet: Frontiers Media S.A., 2019-08-01T00:00:00Z.
• Fag: article
• Online adgang: Connect to this object online.

Distal arthrogryposis (DA) is a heterogeneous sub-group of arthrogryposis multiplex congenita (AMC), mostly characterized by having congenital contractures affecting hands, wrists, feet, and ankles. Distal arthrogryposis is mostly autosomal dominantly inherited, while only one sub-type DA type 5D is...