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Complete abrogation of <jats:italic>P63<\/jats:italic> gene function in an animal model points to the relevance of <jats:italic>P63<\/jats:italic> for the proper development of ectodermally derived tissues. The <jats:italic>p63<\/jats:italic> knockout mouse dies at birth and has truncation of the limbs, as well as absence of epidermis, prostate, breast, and urothelial tissues, apparently reflecting ectodermal stem cell loss. A number of dominant human syndromes have been mapped to chromosome 3q27 and ultimately to mutations in the <jats:italic>p63<\/jats:italic> gene. These syndromes have abnormal limb development and\/or ectodermal dysplasia and include ectrodactyly, ectodermal dysplasia, clefting syndrome; ankyloblepharon, ectodermal dysplasia, clefting syndrome; acro\u2010dermato\u2010ungual\u2010lacrimal\u2010tooth syndrome; limb\u2010mammary syndrome; as well as nonsyndromic split hand\/foot malformation. The pattern of heterozygous mutations is distinct for each of these syndromes. Consistent with this syndrome\u2010specific mutational pattern, the functional consequences of mutations on the p63 proteins also vary, invoking dominant\u2010negative and gain\u2010of\u2010function mechanisms rather than a simple loss of function. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10778","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T05:01:24Z","timestamp":1034139684000},"page":"284-290","source":"Crossref","is-referenced-by-count":106,"title":["<i>P63<\/i> gene mutations and human developmental syndromes"],"prefix":"10.1002","volume":"112","author":[{"given":"Han G.","family":"Brunner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben C.J.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans 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