• <em>TP63</em>-Related Disorders
• A newborn with overlapping features of AEC and EEC syndromes
• A novel mutation (c.1010G&gt;T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia
• A novel stop codon variant affecting ΔNp63 isoforms associated with non-syndromic limb-mammary phenotype and uterine cervix dysplasia
• A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
• ADULT syndrome allelic to limb mammary syndrome (LMS)?
• Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome
• Differentially Expressed Genes in EEC and LMS Syndromes
• EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
• EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
• Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins
• Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
• Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
• Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
• Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias
• Homozygous truncating PTPRF mutation causes athelia
• Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
• Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27
• Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation?
• Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect
• p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly
• P63 gene mutations and human developmental syndromes
• p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
• PMA-induced up-regulation of TBX3 is mediated by AP-1 and contributes to breast cancer cell migration
• R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy
• The p63 gene in EEC and other syndromes
• The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development
• TP63 gene mutations in Chinese P63 syndrome patients