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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548/
https://www.ncbi.nlm.nih.gov/pubmed/32264862
http://dx.doi.org/10.1186/s12891-020-03222-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140548/
https://www.ncbi.nlm.nih.gov/pubmed/32264862
http://dx.doi.org/10.1186/s12891-020-03222-4

Ejemplares similares