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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
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  Data: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
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  Data: <searchLink fieldCode="AU" term="%22Kruijt+CC%22">Kruijt CC</searchLink>; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Bergen+AA%22">Bergen AA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Florijn+RJ%22">Florijn RJ</searchLink>; Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Arveiler+B%22">Arveiler B</searchLink>; Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of Bordeaux, Bordeaux, France.; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Lasseaux+E%22">Lasseaux E</searchLink>; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Zanlonghi+X%22">Zanlonghi X</searchLink>; Centre de Compétence Maladie Rares, Clinique Pluridisciplinaire Jules Verne, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bagdonaite-Bejarano+L%22">Bagdonaite-Bejarano L</searchLink>; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.<br /><searchLink fieldCode="AU" term="%22Fulton+AB%22">Fulton AB</searchLink>; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.<br /><searchLink fieldCode="AU" term="%22Yahalom+C%22">Yahalom C</searchLink>; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Blumenfeld+A%22">Blumenfeld A</searchLink>; Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Perez+Y%22">Perez Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22de+Wit+GC%22">de Wit GC</searchLink>; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Schalij-Delfos+NE%22">Schalij-Delfos NE</searchLink>; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Genderen+MM%22">van Genderen MM</searchLink>; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.
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  Data: <searchLink fieldCode="JN" term="%227703701%22">Investigative ophthalmology & visual science</searchLink> [Invest Ophthalmol Vis Sci] 2022 Jan 03; Vol. 63 (1), pp. 19.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Association+For+Research+In+Vision+And+Ophthalmology+%28Arvo%29%22">Association For Research In Vision And Ophthalmology (Arvo) </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>7703701 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-5783 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2201460404%22">01460404 </searchLink><i>NLM ISO Abbreviation: </i>Invest Ophthalmol Vis Sci <i>Subsets: </i>MEDLINE
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