The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

PURPOSE: The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment abnormalities (FHONDA syndrome), to describe the phenotypic spectrum, and to compare it to albinism. SUBJECTS AND METHODS: We retrospectivel...

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Detalles Bibliográficos
Autores principales: Kruijt, Charlotte C., Gradstein, Libe, Bergen, Arthur A., Florijn, Ralph J., Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B., Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S., de Wit, Gerard C., Schalij-Delfos, Nicoline E., van Genderen, Maria M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Clinical and Epidemiologic Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8762694/
https://www.ncbi.nlm.nih.gov/pubmed/35029636
http://dx.doi.org/10.1167/iovs.63.1.19

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