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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...
Shranjeno v:
| izdano v: | Biomed Res Int |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Hindawi
2020
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| Teme: | |
| Online dostop: | 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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