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  • Title: Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
    Author: Savarirayan R, Thompson E, Gécz J.
    Journal: Eur J Hum Genet; 2003 Sep; 11(9):639-42. PubMed ID: 12939648.
    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.
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