• Bertola DR, Kim CA, Albano LM, Scheffer H, Meijer R, van BH. 2004. Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder. Clin Genet 66: 7980.
  • Bougeard G, Hadj-Rabia S, Faivre L, Sarafan-Vasseur N, Frebourg T. 2003. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet 11: 700704.
  • Candi E, Rufini A, Terrinoni A, Dinsdale D, Ranalli M, Paradisi A, De L V, Spagnoli LG, Catani MV, Ramadan S, Knight RA, Melino G. 2006. Differential roles of p63 isoforms in epidermal development: Selective genetic complementation in p63 null mice. Cell Death Differ 13: 10371047.
  • Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van BG, van HA, Woods CG, van Essen AJ, de WR, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. 1999. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99: 143153.
  • Chan I, McGrath JA, Kivirikko S. 2005. Rapp-Hodgkin syndrome and the tail of p63. Clin Exp Dermatol 30: 183186.
  • Dianzani I, Garelli E, Gustavsson P, Carando A, Gustafsson B, Dahl N, Anneren G. 2003. Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene. J Med Genet 40: e133.
  • Duijf PH, Vanmolkot KR, Propping P, Friedl W, Krieger E, McKeon F, Dotsch V, Brunner HG, van Bokhoven H. 2002. Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. Hum Mol Genet 11: 799804.
  • Fomenkov A, Huang YP, Topaloglu O, Brechman A, Osada M, Fomenkova T, Yuriditsky E, Trink B, Sidransky D, Ratovitski E. 2003. P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 278: 2390623914.
  • Garcia BN, Neumann LM, Mleczko A, Rubach K, Peters H, Rossi R, Sterry W, Blume-Peytavi U. 2007. Hay-Wells syndrome in a child with mutation in the TP73L gene. J Dtsch Dermatol Ges 5: 919923.
  • Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. 2000. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67: 5966.
  • Kannu P, Savarirayan R, Ozoemena L, White SM, McGrath JA. 2006. Rapp-Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay-Wells syndrome. Am J Med Genet Part A 140A: 887891.
  • Kantaputra PN, Hamada T, Kumchai T, McGrath JA. 2003. Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia. J Dent Res 82: 433437.
  • King KE, Ponnamperuma RM, Yamashita T, Tokino T, Lee LA, Young MF, Weinberg WC. 2003. deltaNp63alpha functions as both a positive and a negative transcriptional regulator and blocks in vitro differentiation of murine keratinocytes. Oncogene 22: 36353644.
  • Leoyklang P, Siriwan P, Shotelersuk V. 2006. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet 43: e28.
  • McGrath JA, Duijf PH, Doetsch V, Irvine AD, de WR, Vanmolkot KR, Wessagowit V, Kelly A, Atherton DJ, Griffiths WA, Orlow SJ, van HA, Ausems MG, Yang A, McKeon F, Bamshad MA, Brunner HG, Hamel BC, van Bokhoven H. 2001. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10: 221229.
  • Payne AS, Yan AC, Ilyas E, Li W, Seykora JT, Young TL, Pawel BR, Honig PJ, Camacho J, Imaizumi S, Heymann WR, Schnur RE. 2005. Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: A skin fragility phenotype. Arch Dermatol 141: 15671573.
  • Rinne T, Hamel B, van Bokhoven H, Brunner HG. 2006. Pattern of p63 mutations and their phenotypes-update. Am J Med Genet Part A 140A: 13961406.
  • Rinne T, Brunner HG, van Bokhoven H. 2007. p63-associated disorders. Cell Cycle 6: 262268.
  • Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H. 2008. A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet 17: 19681977.
  • Romano RA, Birkaya B, Sinha S. 2007. A functional enhancer of keratin14 is a direct transcriptional target of deltaNp63. J Invest Dermatol 127: 11751186.
  • Shotelersuk V, Janklat S, Siriwan P, Tongkobpetch S. 2005. De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome. Clin Exp Dermatol 30: 282285.
  • Sorasio L, Ferrero GB, Garelli E, Brunello G, Martano C, Carando A, Belligni E, Dianzani I, Cirillo SM. 2006. AEC syndrome: Further evidence of a common genetic etiology with Rapp-Hodgkin syndrome. Eur J Med Genet 49: 520522.
  • Tsutsui K, Asai Y, Fujimoto A, Yamamoto M, Kubo M, Hatta N. 2003. A novel p63 sterile alpha motif (SAM) domain mutation in a Japanese patient with ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome without ankyloblepharon. Br J Dermatol 149: 395399.
  • van Bokhoven H, Brunner HG. 2002. Splitting p63. Am J Hum Genet 71: 113.
  • van Bokhoven H, Jung M, Smits AP, van Beersum S, Ruschendorf F, van Steensel M, Veenstra M, Tuerlings JH, Mariman EC, Brunner HG, Wienker TF, Reis A, Ropers HH, Hamel BC. 1999. Limb mammary syndrome: A new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27. Am J Hum Genet 64: 538546.
  • van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van BE, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. 2001. p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69: 481492.
  • Yang A, Kaghad M, Wang Y, Gillett E, Fleming MD, Dotsch V, Andrews NC, Caput D, McKeon F. 1998. p63, a p53 homolog at 3q27–29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell 2: 305316.