Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. [electronic resource]
Producer: 20170425Description: 339-347 p. digitalISSN:- 2168-6173
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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