Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
Dianzani
I
I
Department of Medical Sciences, Università del Piemonte Orientale, Novara, Italy. irma.dianzani@med.unipmn.it
Garelli
E
E
Gustavsson
P
P
Carando
A
A
Gustafsson
B
B
Dahl
N
N
Annerén
G
G
D001483:Base Sequence; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D006801:Humans; D007007:Hypohidrosis / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins