Pathology

 mutations in ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC syndrome) (MIM.604292)
 mutations in limb-mammary syndrome (LMS) (MIM.603543)
 mutations in a form of split-hand/foot malformation SHFM4 (MIM.605289)
 mutations in the Hay-Wells syndrome (MIM.106260), a congenital ectodermal dysplasia
 mutations in the acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MIM.103285)
 mutations in the limb-mammary syndrome (MIM.603543)

References

 van Bokhoven H, McKeon F. Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans. Trends Mol Med. 2002 Mar;8(3):133-9. PMID: #11879774#

 Yang A, Kaghad M, Caput D, McKeon F. On the shoulders of giants: p63, p73 and the rise of p53. Trends Genet. 2002 Feb;18(2):90-5. PMID: #11818141#

 Yang A, McKeon F. P63 and P73: P53 mimics, menaces and more. Nat Rev Mol Cell Biol. 2000 Dec;1(3):199-207. PMID: #11252895#

 Lohrum MA, Vousden KH. Regulation and function of the p53-related proteins: same family, different rules. Trends Cell Biol. 2000 May;10(5):197-202. PMID: #10754563#