Adelaide Research & Scholarship
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https://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 |
| DOI: | 10.1038/sj.ejhg.5201025 |
| Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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