Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7217
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Type: Journal article
Title: Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Author: Savarirayan, R.
Thompson, E.
Gecz, J.
Citation: European Journal of Human Genetics, 2003; 11(9):639-642
Publisher: Nature Publishing Group
Issue Date: 2003
ISSN: 1018-4813
1476-5438
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.
Keywords: Chromosomes, Human, X; Humans; Osteochondrodysplasias; Genetic Diseases, X-Linked; Carrier Proteins; Membrane Transport Proteins; Transcription Factors; Mutation
RMID: 0020030047
DOI: 10.1038/sj.ejhg.5201025
Appears in Collections:Paediatrics publications

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