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- Title
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
- Authors
Savarirayan, Ravi; Thompson, Elizabeth; Gécz, Jozef
- Abstract
Spondyloepiphyseal dsplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked short stature, dysplasia of the large joints (hip) and flattened thoracic and lumber vertebral bodies. Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region. The function of the SEDL protein is not known although it is speculated that it may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex.European Journal of Human Genetics (2003) 11, 639-642. doi:10.1038/sj.ejhg.5201025
- Subjects
DYSPLASIA; X chromosome; CELL transformation; ARTIFICIAL hip joints
- Publication
European Journal of Human Genetics, 2003, Vol 11, Issue 9, p639
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201025