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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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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Society for Laboratory Medicine
2012
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| Assuntos: | |
| Acesso em linha: | 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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