title: Kapur-Toriello syndrome: a further case report and expansion of the phenotype.
authors.affiliation: aDepartment of Clinical Genetics, Oxford University Hospitals NHS Trust bThe Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK.
authors.forename: Henrietta
authors.initials: H
authors.lastname: Lefroy
authors.forename: Tim
authors.initials: T
authors.lastname: Goodacre
authors.forename: Usha
authors.initials: U
authors.lastname: Kini
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000209:etiology; D000293:Adolescent; D002971:Cleft Lip / Q000175:diagnosis* / Q000209:etiology; D002972:Cleft Palate / Q000175:diagnosis* / Q000209:etiology; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000209:etiology; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000209:etiology; D007422:Intestines / Q000002:abnormalities*; D008297:Male; D010641:Phenotype