- X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree
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Ryu H, Park J, Chae H, Kim M, Kim Y, Ok IY
- KMID: 1381692
- Ann Lab Med.
- 2012 May;32(3):234-237.
- doi: 10.3343/alm.2012.32.3.234
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... -
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