Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
- 26 August 2003
- journal article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 11 (9) , 639-642
- https://doi.org/10.1038/sj.ejhg.5201025
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.Keywords
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