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

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Title: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Authors: Kruijt CC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Bergen AA; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands.; The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, The Netherlands.; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands., Florijn RJ; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands., Arveiler B; Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Lasseaux E; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France., Zanlonghi X; Centre de Compétence Maladie Rares, Clinique Pluridisciplinaire Jules Verne, Nantes, France., Bagdonaite-Bejarano L; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States., Fulton AB; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States., Yahalom C; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel., Blumenfeld A; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel., Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel., Birk OS; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.; Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel., de Wit GC; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Schalij-Delfos NE; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands., van Genderen MM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2022 Jan 03; Vol. 63 (1), pp. 19.
Publication Type: Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-5783
DOI:10.1167/iovs.63.1.19