An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.
Lehmann
Katarina
K
Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. katarina.lehmann@charite.de
Mundlos
Stefan
S
Meinecke
Peter
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016147:Genes, Tumor Suppressor; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010750:Phosphoproteins / Q000235:genetics*; D010859:Pigmentation Disorders / Q000150:complications / Q000175:diagnosis / 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