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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
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