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Eur J Hum Genet. 2003 Sep;11(9):639-42.

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).

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1
Genetic Health Services Victoria, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Victoria, Australia.

Abstract

Spondyloepiphyseal dysplasia 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.

PMID:
12939648
DOI:
10.1038/sj.ejhg.5201025
[Indexed for MEDLINE]
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