The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

INTRODUCTION: Distal arthrogryposis type 5D (DA5D) is an autosomal recessive disease. The clinical symptoms include contractures of the joints of limbs, especially camptodactyly of the hands and/or feet, unilateral ptosis, a round-shaped face, arched eyebrows, and micrognathia, without ophthalmopleg...

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Vydáno v:Biomed Res Int
Hlavní autoři: Jin, Jie-Yuan, Liu, Dan-Yu, Jiao, Zi-Jun, Dong, Yi, Li, Jie, Xiang, Rong
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7273484/
https://ncbi.nlm.nih.gov/pubmed/32566668
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/2149342
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