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

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

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...

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Bibliographic Details
Main Authors: Muhammad Umair, Amjad Khan, Amir Hayat, Safdar Abbas, Abdulaziz Asiri, Muhammad Younus, Wajid Amin, Shoaib Nawaz, Shazia Khan, Erum Malik, Majid Alfadhel, Farooq Ahmad
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-08-01
Series:Frontiers in Pediatrics
Subjects:
distal arthrogryposis
DA5D
ECEL1
contractures
missense mutation
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00343/full

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https://www.frontiersin.org/article/10.3389/fped.2019.00343/full

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