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Paper Details

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Ophthalmology
23
2022
AHR, AHR variants, Atypical FH, FH, FRMD7, FRMD7 variants, Foveal Hypoplasia, HPS, Hermansky-Pudlak syndrome, OA, OCA, Ocular albinism, PAX6, PAX6 variants, SLC38A8, achromatopsia, albinism, arrested retinal development, foveal developmental arrest, foveal hypoplasia, ocular albinism, oculocutaneous albinism, patients, photoreceptor
Author NameAffiliation
Richard W HertleThe Rebecca D. Considine Research Institute and The Children's Vision Center, Akron Children's Hospital, The Northeastern Ohio Medical University
Fred K ChenCentre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia
Brian P BrooksNational Eye Institute, National Institutes of Health
Lluis MontoliuNational Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCIII
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