A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting.
Pozo
G
G
Canún
S
S
Kofman-Alfaro
S
S
Zenteno
J C
JC
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008969:Molecular Sequence Data; D009056:Mouth Abnormalities / Q000235:genetics; D017354:Point Mutation; D013577:Syndrome