A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
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...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo and Yan Liang Tags: Research article Source Type: research
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