title: A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
authors.forename: M
authors.initials: M
authors.lastname: Al-Shammari
authors.forename: M
authors.initials: M
authors.lastname: Al-Husain
authors.forename: T
authors.initials: T
authors.lastname: Al-Kharfy
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D002531:Cerebellum / Q000002:abnormalities*; D048909:Diabetes Complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D014157:Transcription Factors; C062602:transcription factor PTF1