title: Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
authors.affiliation: Institut für Humangenetik, Universitäts Krankenhaus Eppendorf, Hamburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Fuchs
authors.forename: D
authors.initials: D
authors.lastname: van de Pol
authors.forename: U
authors.initials: U
authors.lastname: Beudt
authors.forename: U
authors.initials: U
authors.lastname: Kellner
authors.forename: F
authors.initials: F
authors.lastname: Meire
authors.forename: W
authors.initials: W
authors.lastname: Berger
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000328:Adult; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002648:Child; D003638:Deafness / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D014960:X Chromosome