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Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?

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We recently witnessed a family with recurrent fetal anophthalmia and maternally transmitted RBP4 (retinol-binding protein 4) mutation. The pathophysiology behind this congenital malformation and the importance of maternal transmission of… Click to show full abstract

We recently witnessed a family with recurrent fetal anophthalmia and maternally transmitted RBP4 (retinol-binding protein 4) mutation. The pathophysiology behind this congenital malformation and the importance of maternal transmission of mutation in causing eye malformation are worthy of discussion for several reasons. We therefore thought of bringing it up in your journal

Keywords: maternal transmission; transmission; congenital eye; transmission rbp4; rbp4 congenital

Journal Title: Ophthalmic Genetics
Year Published: 2022

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