TY  - GEN
AU  - Taylor,Rachel L
AU  - Arno,Gavin
AU  - Poulter,James A
AU  - Khan,Kamron N
AU  - Morarji,Jiten
AU  - Hull,Sarah
AU  - Pontikos,Nikolas
AU  - Rueda Martin,Antonio
AU  - Smith,Katherine R
AU  - Ali,Manir
AU  - Toomes,Carmel
AU  - McKibbin,Martin
AU  - Clayton-Smith,Jill
AU  - Grunewald,Stephanie
AU  - Michaelides,Michel
AU  - Moore,Anthony T
AU  - Hardcastle,Alison J
AU  - Inglehearn,Chris F
AU  - Webster,Andrew R
AU  - Black,Graeme C
TI  - Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
SN  - 2168-6173
PY  - 2017///0425
KW  - 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
KW  - genetics
KW  - Adolescent
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Exome
KW  - Female
KW  - Fluorescein Angiography
KW  - Genome
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Retinal Dystrophies
KW  - Sequence Analysis, DNA
KW  - Vision Disorders
KW  - Visual Acuity
KW  - physiology
KW  - Visual Field Tests
KW  - Visual Fields
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1001/jamaophthalmol.2017.0046
ER  -