The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences-Reference-Cited by-同舟云学术

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

Published:2022-01-14 Issue:1 Volume:63 Page:19
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Kruijt Charlotte C.¹²,Gradstein Libe³,Bergen Arthur A.⁴⁵⁶,Florijn Ralph J.⁴,Arveiler Benoit⁷⁸,Lasseaux Eulalie⁸,Zanlonghi Xavier⁹,Bagdonaite-Bejarano Laura¹⁰,Fulton Anne B.¹⁰¹¹,Yahalom Claudia¹²,Blumenfeld Anat¹²,Perez Yonatan¹³,Birk Ohad S.¹³¹⁴,de Wit Gerard C.¹,Schalij-Delfos Nicoline E.²,van Genderen Maria M.¹¹⁵

Affiliation:

1. Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands

2. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands

3. Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel

4. Department of Human Genetics, Amsterdam University Medical Center, Location AMC, Amsterdam, The Netherlands

5. The Netherlands Institute for Neurosciences (NIN-KNAW), Amsterdam, The Netherlands

6. Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands

7. Maladies Rares: Génétique et Métabolisme (MRGM), Inserm U1211, University of Bordeaux, Bordeaux, France

8. Department of Medical Genetics, CHU Bordeaux, Bordeaux, France

9. Centre de Compétence Maladie Rares, Clinique Pluridisciplinaire Jules Verne, Nantes, France

10. Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States

11. Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States

12. Faculty of Medicine, Hebrew University of Jerusalem, Israel; Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel

13. 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

14. Genetics Institute, Soroka Medical Center, Ben Gurion University of the Negev, Beer Sheva, Israel

15. Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference43 articles.

1. Albinism;Kinnear;Surv Ophthalmol,1985

2. Vision in albinism;Summers;Trans Am Ophtalmol Soc,1996

3. Clinical features of affected males with X linked ocular albinism;Charles;Br J Ophthalmol,1993

4. Correction of retinal abnormalities found in albinism by introduction of a functional tyrosinase gene in transgenic mice and rabbits;Jeffery;Dev Brain Res,1997

5. Chiasmal misrouting and foveal hypoplasia without albinism.;van Genderen;Br J Ophthalmol.,2006

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