Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet (London, England). 2009;374(9703):1773–85.
Article
Google Scholar
Leoyklang P, Siriwan P, Shotelersuk V. A mutation of the p63 gene in non-syndromic cleft lip. J Med Genet. 2006;43(6):e28.
Article
CAS
Google Scholar
Blanton SH, Burt A, Stal S, Mulliken JB, Garcia E, Hecht JT. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A. 2010;88(4):256–9.
CAS
Google Scholar
Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, et al. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet. 2010;42(6):525–9.
Article
CAS
Google Scholar
Mangold E, Ludwig KU, Birnbaum S, Baluardo C, Ferrian M, Herms S, et al. Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet. 2010;42(1):24–6.
Article
CAS
Google Scholar
Aberg T, Cavender A, Gaikwad JS, Bronckers AL, Wang X, Waltimo-Sirén J, et al. Phenotypic changes in dentition of Runx2 homozygote-null mutant mice. J Histochem Cytochem. 2004;52(1):131–9.
Article
CAS
Google Scholar
Ardinger HH, Buetow KH, Bell GI, Bardach J, VanDemark DR, Murray JC. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate. Am J Hum Genet. 1989;45(3):348–53.
CAS
PubMed
PubMed Central
Google Scholar
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999;99(2):143–53.
Article
CAS
Google Scholar
Thomason HA, Dixon MJ, Dixon J. Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling. Develop Biol. 2008;321(1):273–82.
Article
CAS
Google Scholar
Kim BY, Park MH, Woo HM, Jo HY, Kim JH, Choi HJ, et al. Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing. BMC Med Genet. 2017;18(1):106.
Article
Google Scholar
Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4–23.
Article
CAS
Google Scholar
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, et al. 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. 2001;69(3):481–92.
Article
Google Scholar
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, et al. Deletions and loss-of-function variants in TP63 associated with orofacial clefting. Eur J Human Genet. 2019;27(7):1101–12.
Article
Google Scholar
Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999;398(6729):714–8.
Article
CAS
Google Scholar
Alves LU, Pardono E, Otto PA, Mingroni Netto RC. A novel c.1037C>G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. Genet Mol Biol. 2015;38(1):37–41.
Article
CAS
Google Scholar
Kantaputra PN, Malaivijitnond S, Vieira AR, Heering J, Dötsch V, Khankasikum T, et al. Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. Am J Med Genet A. 2011;155a(6):1432–6.
Article
Google Scholar