Condition: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3


rs1205536026 in TP63 gene and ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 PMID 10839977 2000 Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

PMID 12838557 2003 EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma.

PMID 11462173 2001 p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

PMID 10535733 1999 Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

PMID 19903181 2010 Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.

PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.