title: Occurrence of complete arhinia in two siblings with a clinical picture of Treacher Collins syndrome negative for TCOF1, POLR1D and POLR1C mutations.
authors.affiliation: Medical Genetics Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan Department of Maxillo-Facial Surgery, San Paolo University Hospital, Milan Medical Genetics Laboratory, Policlinico S. Orsola-Malpighi, Bologna, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Cesaretti
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.forename: Vera
authors.initials: V
authors.lastname: Bianchi
authors.forename: Giulia
authors.initials: G
authors.lastname: Melloni
authors.forename: Michela
authors.initials: M
authors.lastname: Bonaguro
authors.forename: Cesare
authors.initials: C
authors.lastname: Rossi
authors.forename: Costanza
authors.initials: C
authors.lastname: Meazzini
authors.forename: Roberto
authors.initials: R
authors.lastname: Brusati
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
mesh_terms: D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D012321:DNA-Directed RNA Polymerases / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D059785:Karyotype; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics*; D009666:Nose / Q000002:abnormalities; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D035781:Siblings
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D012321:DNA-Directed RNA Polymerases; C569283:POLR1C protein, human; C569282:POLR1D protein, human