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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
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
Genetic Diseases, X-Linked
Carrier Proteins
Membrane Transport Proteins
Transcription Factors
DOI: 10.1038/sj.ejhg.5201025
Appears in Collections:Aurora harvest 5
Paediatrics publications

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