The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype.
Kier-Swiatecka
Elisa
E
Department of Oral and Maxillo-facial Surgery, Odense University Hospital, Odense, Denmark. elisa.kier-swiatecka@ouh.fyn-amt.dk
Kock
Marianne
M
Marker
Peter
P
Eiberg
Hans
H
Kjaer
Klaus Wilbrandt
KW
D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D004268:DNA-Binding Proteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins