Condition: SPONDYLOCOSTAL DYSOSTOSIS 5


rs201620629 in TBX6 gene and SPONDYLOCOSTAL DYSOSTOSIS 5 PMID 25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

PMID 23335591 2013 Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.