A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family

Abstract Background Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and early onset of degenerative osteoarthritis. Clinical diagnosis can...

Full description

Bibliographic Details
Main Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo, Yan Liang
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Spondyloepiphyseal dysplasia tarda
Short stature
TRAPPC2
SEDL
Online Access:http://link.springer.com/article/10.1186/s12881-020-01052-8

Internet

http://link.springer.com/article/10.1186/s12881-020-01052-8

Similar Items