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Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

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dc.contributor.authorSavarirayan, R.
dc.contributor.authorThompson, E.
dc.contributor.authorGecz, J.
dc.date.issued2003
dc.description.abstractSpondyloepiphyseal 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.
dc.identifier.citationEuropean Journal of Human Genetics, 2003; 11(9):639-642
dc.identifier.doi10.1038/sj.ejhg.5201025
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/7217
dc.language.isoen
dc.publisherNature Publishing Group
dc.source.urihttps://doi.org/10.1038/sj.ejhg.5201025
dc.subjectChromosomes, Human, X
dc.subjectHumans
dc.subjectOsteochondrodysplasias
dc.subjectGenetic Diseases, X-Linked
dc.subjectCarrier Proteins
dc.subjectMembrane Transport Proteins
dc.subjectTranscription Factors
dc.subjectMutation
dc.titleSpondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
dc.typeJournal article
pubs.publication-statusPublished

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