A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report

BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnormality primarily involving the hip and knee joints. Mutations in a gene encoding matrilin-3 (MATN3) have been reported as disease causing of autosomal dominant...

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Detalhes bibliográficos
Publicado no:BMC Musculoskelet Disord
Main Authors: Ho, Thuong Thi, Tran, Linh Huyen, Hoang, Lan Thu, Doan, Phuong Kim Thi, Nguyen, Trang Thi, Nguyen, Trang Hong, Tran, Hoai Thu, Hoang, Ha, Chu, Ha Hoang, Luong, Anh Lan Thi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7140548/
https://ncbi.nlm.nih.gov/pubmed/32264862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-020-03222-4
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