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; Human Molecular Genetics, 2001, vol. 10, issue 3, p 221, ISSN 09646906. ISBN 09646906.

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