title: An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.
authors.affiliation: Medical Genetics, USL9, 'Misericordia' Hospital, Grosseto Department of Genetic Diagnosis, 'Careggi' University Hospital, Firenze Molecular Medicine, 'Senese' University Hospital, Siena, Italy.
authors.forename: Ambra
authors.initials: A
authors.lastname: Cortesi
authors.forename: Maja
authors.initials: M
authors.lastname: Rossi
authors.forename: Marta
authors.initials: M
authors.lastname: Mazzi
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Marseglia
authors.forename: Chiara
authors.initials: C
authors.lastname: Pescucci
authors.forename: Simona
authors.initials: S
authors.lastname: Palchetti
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000235:genetics / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D059785:Karyotype; D009154:Mutation