A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT, Tran LH, Hoang LT, Doan PKT, Nguyen TT, Nguyen TH, Tran HT, Hoang H, Chu HH, Luong ALT.
Ho TT, et al.
BMC Musculoskelet Disord. 2020 Apr 7;21(1):216. doi: 10.1186/s12891-020-03222-4.
BMC Musculoskelet Disord. 2020.
PMID: 32264862
Free PMC article.
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 dise …
BACKGROUND: Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia that is characterized by variable degrees of epiphyseal abnor …