Articles with "due allelic" as a keyword



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Vitamin A deficiency due to bi-allelic mutation of RBP4: There’s more to it than meets the eye

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Published in 2017 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2016.1227453

Abstract: ABSTRACT Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy… read more here.

Keywords: due allelic; allelic mutation; deficiency; eye ... See more keywords