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searching for Spondylocostal dysostosis 3 found (15 total)

alternate case: spondylocostal dysostosis

MMAA (597 words) [view diff] exact match in snippet view article find links to article

PMID 17597648. Honjo RS, Casella EB, Vieira MA, et al. (2009). "Spondylocostal dysostosis associated with methylmalonic aciduria". Genet Test Mol Biomarkers

TBX6 (610 words) [view diff] exact match in snippet view article find links to article

Brown MA, Duncan EL, Dunwoodie SL (Apr 2013). "Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6". Human Molecular Genetics. 22 (8):

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

SLC39A13 Spondylocostal dysostosis, autosomal recessive 2; 608681; MESP2 Spondylocostal dysostosis, autosomal recessive 3; 609813; LFNG Spondylocostal dysostosis