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

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

Abstract 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 d...

Full description

Bibliographic Details
Main Authors: Thuong Thi Ho, Linh Huyen Tran, Lan Thu Hoang, Phuong Kim Thi Doan, Trang Thi Nguyen, Trang Hong Nguyen, Hoai Thu Tran, Ha Hoang, Ha Hoang Chu, Anh Lan Thi Luong
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Musculoskeletal Disorders
Subjects:
Multiple epiphyseal dysplasia
MATN3
Vietnamese case
Heterozygous
de novo missense variant
P.A191D matrilin-3
Online Access:http://link.springer.com/article/10.1186/s12891-020-03222-4

Internet

http://link.springer.com/article/10.1186/s12891-020-03222-4

Similar Items