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 architecture of retinoic-acid signaling-associated ocular developmental defects.
Nedelec B et al.
Human Genetics, 2019
Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.
Chou CM et al.
Cell, 2015
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