title: Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27).
abstract: The congenital vomer defect (CVD) is a rare and still partially unknown condition. Only few cases have been reported in the international literature and the large majority of them appeared to be isolated. We report a case of CVD detected in a 7-year-old girl affected by ectodermal dysplasia clefting syndrome caused by a mutation of the TP63 gene.
authors.affiliation: Phoniatric Unit, Department of Biomedical and Clinical Sciences L. Sacco, University of Milan, Milan, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Schindler
authors.forename: L
authors.initials: L
authors.lastname: Guazzarotti
authors.forename: C
authors.initials: C
authors.lastname: Mameli
authors.forename: E
authors.initials: E
authors.lastname: Urbani
authors.forename: F
authors.initials: F
authors.lastname: Mozzanica
authors.forename: L
authors.initials: L
authors.lastname: Guerrini
authors.forename: G V
authors.initials: GV
authors.lastname: Zuccotti
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D002971:Cleft Lip / Q000235:genetics* / Q000601:surgery; D002972:Cleft Palate / Q000235:genetics* / Q000601:surgery; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D009300:Nasal Septum / Q000002:abnormalities; D035583:Rare Diseases; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D055172:Vomer / Q000002:abnormalities*
chemical_list: C115051:TP63 protein, human; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
keywords: Clefting; EEC; Nasal septum; Ossification; P63 gene; Vomeral bone