A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects-Reference-Cited by-同舟云学术

A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects

Published:2023-10-20 Issue:13 Volume:64 Page:32
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Guardia Ana¹²,Fernández Almudena¹²,Seruggia Davide¹²,Chotard Virginie³,Sánchez-Castillo Carla⁴,Kutsyr Oksana⁵,Sánchez-Sáez Xavier⁴,Zurita Esther¹²,Cantero Marta¹²,Rebsam Alexandra³,Cuenca Nicolás⁴,Montoliu Lluís¹²

Affiliation:

1. Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Madrid, Spain

2. Centre for Biomedical Network Research on Rare Diseases (CIBERER-ISCIII), Madrid, Spain

3. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

4. Department of Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain

5. Department of Optics, Pharmacology and Anatomy, University of Alicante, Alicante, Spain

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

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3. Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse;Fernández;Pigment Cell Melanoma Res,2021

4. The retinal pigmentation pathway in human albinism: not so black and white;Bakker;Prog Retin Eye Res,2022

5. Genotypic and phenotypic spectrum of foveal hypoplasia: a multicenter study;Kuht;Ophthalmology,2022