title: Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.
authors.forename: S
authors.initials: S
authors.lastname: Taşdemir
authors.forename: A
authors.initials: A
authors.lastname: Güzel-Ozantürk
authors.forename: J D
authors.initials: JD
authors.lastname: Marshall
authors.forename: G B
authors.initials: GB
authors.lastname: Collin
authors.forename: R K
authors.initials: RK
authors.lastname: Ozgül
authors.forename: N
authors.initials: N
authors.lastname: Narin
authors.forename: M
authors.initials: M
authors.lastname: Dündar
authors.forename: J K
authors.initials: JK
authors.lastname: Naggert
mesh_terms: D000293:Adolescent; D056769:Alstrom Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D018797:Cell Cycle Proteins; D004452:Echocardiography; D006801:Humans; D008297:Male; D009154:Mutation; D057089:Pathology, Molecular; D011506:Proteins / Q000235:genetics*
chemical_list: C490729:ALMS1 protein, human; D018797:Cell Cycle Proteins; D011506:Proteins