Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Taylor, Rachel L
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. [electronic resource] - JAMA ophthalmology 04 2017 - 339-347 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2168-6173
10.1001/jamaophthalmol.2017.0046 doi
3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics
Adolescent
Congenital Disorders of Glycosylation--diagnosis
DNA Mutational Analysis
Electroretinography
Exome--genetics
Female
Fluorescein Angiography
Genome--genetics
Humans
Male
Membrane Proteins--genetics
Mutation
Pedigree
Phenotype
Retinal Dystrophies--diagnosis
Sequence Analysis, DNA
Vision Disorders--diagnosis
Visual Acuity--physiology
Visual Field Tests
Visual Fields
Young Adult
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. [electronic resource] - JAMA ophthalmology 04 2017 - 339-347 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
2168-6173
10.1001/jamaophthalmol.2017.0046 doi
3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics
Adolescent
Congenital Disorders of Glycosylation--diagnosis
DNA Mutational Analysis
Electroretinography
Exome--genetics
Female
Fluorescein Angiography
Genome--genetics
Humans
Male
Membrane Proteins--genetics
Mutation
Pedigree
Phenotype
Retinal Dystrophies--diagnosis
Sequence Analysis, DNA
Vision Disorders--diagnosis
Visual Acuity--physiology
Visual Field Tests
Visual Fields
Young Adult