X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita...

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Bibliografiske detaljer
Main Authors: Ryu, Hyejin, Park, Joonhong, Chae, Hyojin, Kim, Myungshin, Kim, Yonggoo, Ok, In-Young
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Society for Laboratory Medicine 2012
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3339307/
https://ncbi.nlm.nih.gov/pubmed/22563562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2012.32.3.234
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