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|Title:||Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)|
|Citation:||European Journal of Human Genetics, 2003; 11(9):639-642|
|Publisher:||Nature Publishing Group|
|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|
|Appears in Collections:||Paediatrics publications|
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