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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Hindawi
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273484/ https://www.ncbi.nlm.nih.gov/pubmed/32566668 http://dx.doi.org/10.1155/2020/2149342 |