title: Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
authors.forename: D R
authors.initials: DR
authors.lastname: Bertola
authors.forename: C A
authors.initials: CA
authors.lastname: Kim
authors.forename: L M J
authors.initials: LM
authors.lastname: Albano
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: R
authors.initials: R
authors.lastname: Meijer
authors.forename: H
authors.initials: H
authors.lastname: van Bokhoven
mesh_terms: D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016147:Genes, Tumor Suppressor; D006801:Humans; D008297:Male; D009154:Mutation; D010750:Phosphoproteins / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins