Associated Papers
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Plaisancié J et al.
Journal of Medical Genetics, 2023
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations.
Kessel L et al.
Ophthalmic Genetics, 2022
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.
Cehajic-Kapetanovic J et al.
Ophthalmic Genetics, 2020
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
Plaisancié J et al.
Human Genetics, 2019
Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.
Borel P et al.
Nutrients, 2017
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
Khan KN et al.
Ophthalmic Genetics, 0
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