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autosomal recessive spondylocostal dysostosis

Thursday 11 January 2007

Types

- autosomal recessive spondylocostal dysostosis type 1 (SCDO1) at 19q13: germline mutation in the DLL3 gene (MIM.602768)

- autosomal recessive spondylocostal dysostosis type 2 (SCDO2) at 15q26.1: germline mutations in the MESP2 gene (MIM.605195)

- autosomal recessive spondylocostal dysostosis type 3 (SCDO3) at 7p22
: germline mutations in the LFNG gene (MIM.602576)