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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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Umair, Muhammad, Khan, Amjad, Hayat, Amir, Abbas, Safdar, Asiri, Abdulaziz, Younus, Muhammad, Amin, Wajid, Nawaz, Shoaib, Khan, Shazia, Malik, Erum, Alfadhel, Majid, Ahmad, Farooq
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2019
Assuntos:
Pediatrics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6724761/
https://ncbi.nlm.nih.gov/pubmed/31555621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00343
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