A novel TP63 mutation in family with ADULT syndrome presenting with eczema and hypothelia.
van Zelst-Stams
W A G
WA
van Steensel
M A M
MA
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001941:Breast Diseases / Q000150:complications / Q000151:congenital / Q000175:diagnosis; D002648:Child; D004485:Eczema / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D009558:Nipples / Q000002:abnormalities*; D013577:Syndrome; D014071:Tooth Abnormalities / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins