Taylor, Rachel L <br/><br/>
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 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2168-6173 
<br/><br/><label>Standard No.: </label>10.1001/jamaophthalmol.2017.0046  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics<br/>Adolescent<br/>Congenital Disorders of Glycosylation--diagnosis<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Exome--genetics<br/>Female<br/>Fluorescein Angiography<br/>Genome--genetics<br/>Humans<br/>Male<br/>Membrane Proteins--genetics<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Retinal Dystrophies--diagnosis<br/>Sequence Analysis, DNA<br/>Vision Disorders--diagnosis<br/>Visual Acuity--physiology<br/>Visual Field Tests<br/>Visual Fields<br/>Young Adult