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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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Detalles Bibliográficos
Autores principales:	Ryu, Hyejin, Park, Joonhong, Chae, Hyojin, Kim, Myungshin, Kim, Yonggoo, Ok, In-Young
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339307/ https://www.ncbi.nlm.nih.gov/pubmed/22563562 http://dx.doi.org/10.3343/alm.2012.32.3.234

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