Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)-Reference-Cited by-同舟云学术

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

Published:2019-08-28 Issue: Volume:7 Page:
ISSN:2296-2360
Container-title:Frontiers in Pediatrics
language:
Short-container-title:Front. Pediatr.

Author:

Umair Muhammad,Khan Amjad,Hayat Amir,Abbas Safdar,Asiri Abdulaziz,Younus Muhammad,Amin Wajid,Nawaz Shoaib,Khan Shazia,Malik Erum,Alfadhel Majid,Ahmad Farooq

Publisher

Frontiers Media SA

Subject

Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Arevised and extended classification of the distal arthrogryposes;Bamshad;Am J Med Genet,1996

2. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis;Dieterich;Hum Mol Genet,2013

3. ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis;Nagata;Acta Neuropathol,2016

4. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases;Stattin;Am J Med Genet A,2018

5. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes;Sung;Am J Hum Genet,2003

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