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...
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 |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-04-01
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Series: | BMC Musculoskeletal Disorders |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12891-020-03222-4 |
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