We present the clinical symptoms of four patients which resulted from mutation s in the p63 gene. The variability of the phenotype includes an isolated split h and/foot malformation (patient 1), split hand/foot malfor...We present the clinical symptoms of four patients which resulted from mutation s in the p63 gene. The variability of the phenotype includes an isolated split h and/foot malformation (patient 1), split hand/foot malformation with ectodermal defects (patients 2 and 3), and ectodermal dysplasia as a main feature of the an kyloblepharon-ectodermal defects-cleft lip/-palate (AEC) syndrome (patient 4) . Different phenotypes of p63-associated disorders and the correlation between the phenotype and genotype are discussed.展开更多
文摘We present the clinical symptoms of four patients which resulted from mutation s in the p63 gene. The variability of the phenotype includes an isolated split h and/foot malformation (patient 1), split hand/foot malformation with ectodermal defects (patients 2 and 3), and ectodermal dysplasia as a main feature of the an kyloblepharon-ectodermal defects-cleft lip/-palate (AEC) syndrome (patient 4) . Different phenotypes of p63-associated disorders and the correlation between the phenotype and genotype are discussed.
