Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.
Fuchs
S
S
Institut für Humangenetik, Universitäts Krankenhaus Eppendorf, Hamburg, Germany.
van de Pol
D
D
Beudt
U
U
Kellner
U
U
Meire
F
F
Berger
W
W
Gal
A
A
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