Condition: Cleft palate, isolated


rs1057516039 in KMT2D gene and Cleft palate, isolated PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Cleft palate, isolated PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs797044484 in TP63 gene and Cleft palate, isolated 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.