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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Detalles Bibliográficos
Autores principales: Zhang, Cai, Du, Caiqi, Ye, Juan, Ye, Feng, Wang, Renfa, Luo, Xiaoping, Liang, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260818/
https://www.ncbi.nlm.nih.gov/pubmed/32471379
http://dx.doi.org/10.1186/s12881-020-01052-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260818/
https://www.ncbi.nlm.nih.gov/pubmed/32471379
http://dx.doi.org/10.1186/s12881-020-01052-8

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