Ian D. Young

Holt–Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

R. Newbury-Ecob, J. Terrett, G. Cross, 1994, Nature Genetics.

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

David I. Wilson, T. Strachan, A. Buckler, 1997, Nature Genetics.

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.

J. Weissenbach, J. W. Foster, P. Goodfellow, 1995, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.