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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6724761/ https://www.ncbi.nlm.nih.gov/pubmed/31555621 http://dx.doi.org/10.3389/fped.2019.00343

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