X linked progressive cone dystrophy with specific attention to carrier detection.

Author:

van Everdingen J A,Went L N,Keunen J E,Oosterhuis J A

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Cone dysfunction syndrome;Goodman, G.; Ripps, H.; Siegel, I.M.;Arch Ophthalmol,1963

2. Progressive cone dystrophy;Ripps, H.; Noble, K.G.; Greenstein, V.C.; Siegel, I.M.; Carr, R.E.;Ophthalmology,1987

3. Cone degenerations ("Bull's eye dystrophies") and color vision defects;Weleber, R.G.; Eisner, A.,1988

4. Cone degenerations;Krill, A.E.,1977

5. Progressive cone dystrophy;Deutman, A.F.,1971

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1. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in theRPGRGene;Investigative Opthalmology & Visual Science;2018-08-13

2. Hereditary Chorioretinal Dystrophies;The Retinal Atlas;2010

3. Progressive Cone Dystrophy Associated with Mutation inCNGB3;Investigative Opthalmology & Visual Science;2004-06-01

4. Lexikalischer Teil;Lexikon der Syndrome und Fehlbildungen;2003

5. Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy;Acta Ophthalmologica Scandinavica;2001-08

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