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Explore Editage All Accesshttps://doi.org/10.1136/jmg-2023-109331
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Aug 16, 2023 |
 Citations: 1 |
Affiliation: Hôpital Necker-Enfants Malades, Laboratoire de Microbiologie et Génétique Moléculaires, Sorbonne Université, Hôpital Armand-Trousseau, Hôpitaux Universitaires Paris-Ouest, Genetics, Functional Genomics and Biotechnology, Maternité Port Royal, Hôpital Cochin, Centre Hospitalier Universitaire de Clermont-Ferrand, Oxford Brookes University, Birmingham Women’s and Children’s NHS Foundation TrustBackgroundThe retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in retinol-binding protein 4 (RBP4), encoding...
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