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

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 be chall...

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Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Zhang, Cai, Du, Caiqi, Ye, Juan, Ye, Feng, Wang, Renfa, Luo, Xiaoping, Liang, Yan
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2020
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7260818/
https://ncbi.nlm.nih.gov/pubmed/32471379
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01052-8
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