Condition: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME


rs121918584 in FFAR4;RBP4 gene and RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME PMID 10232633 1999 Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.

PMID 23189188 2012 Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

PMID 9888420 1999 Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.