title: Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.
authors.forename: Adam P
authors.initials: AP
authors.lastname: DeLuca
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.
authors.forename: Matthew C
authors.initials: MC
authors.lastname: Weed
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.
authors.forename: Christine M
authors.initials: CM
authors.lastname: Haas
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Halder
authors.affiliation: Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City2Howard Hughes Medical Institute, Iowa City, Iowa.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D000328:Adult; D001299:Audiometry; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D059472:Exome / Q000235:genetics; D020558:GTP Phosphohydrolases / Q000235:genetics; D006162:Guanylate Cyclase / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D016547:Kinesins / Q000235:genetics; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011956:Receptors, Cell Surface / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D000076988:Sulfate Transporters; D052245:Usher Syndromes / Q000235:genetics*; D014792:Visual Acuity / Q000502:physiology
chemical_list: C464790:Bbs1 protein, human; C502069:KIF7 protein, human; D026901:Membrane Transport Proteins; D008869:Microtubule-Associated Proteins; D011956:Receptors, Cell Surface; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; C110715:guanylate cyclase 1; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human; D016547:Kinesins; D006162:Guanylate Cyclase