Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
McGrath JA, Duijf PH, Doetsch V, Irvine AD, de Waal R, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van Haeringen A, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H.
Hum Mol Genet. 2001 Feb 1;10(3):221-9. doi: 10.1093/hmg/10.3.221.
PMID:11159940
Shaken adult syndrome due to ocean wave: an autopsy case.
Ninomiya K, Nakaza E, Yamashiro T, Abe T, Ikematsu N, Nagama H, Kakazu K, Fukasawa M.