Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center

Author:

Seguy Paul-Henri1,Korobelnik Jean-François12,Delyfer Marie-Noëlle12,Michaud Vincent34,Arveiler Benoit34,Lasseaux Eulalie3,Gattoussi Sarra1,Rougier Marie-Bénédicte1,Trin Kilian5,Morice-Picard Fanny6,Ghomashchi Nathalie1,Coste Valentine1

Affiliation:

1. Ophthalmology Department, CHU Bordeaux, Bordeaux, France

2. Inserm, Bordeaux Population Health Research Center, Team LEHA, Université de Bordeaux, Bordeaux, France

3. Medical Genetics Department, CHU Bordeaux, Bordeaux, France

4. INSERM U1211, Rare Diseases, Genetics and Metabolism, Université de Bordeaux, Bordeaux, France

5. Department of Pharmacology Medical, Bordeaux Regional Pharmacovigilance, Bordeaux University Hospital, Bordeaux, France

6. Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference48 articles.

1. Oculocutaneous albinism;Grønskov;Orphanet J Rare Dis,2007

2. Albinism;Kinnear;Surv Ophthalmol,1985

3. Albinism: classification, clinical characteristics, and recent findings;Summers;Optometry Vis Sci,2009

4. Increasing the complexity: new genes and new types of albinism;Montoliu;Pigment Cell Melanoma Res,2014

5. Dopachrome tautomerase variants in patients with oculocutaneous albinism;Pennamen;Genet Med,2021

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