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.