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Article

Unrecognized ROPER in a child with a novel pathogenic variant in ZNF408 gene.

Ophthalmic genetics - 1 Apr 2023

Tanenbaum Rebecca, Acon Dhariana, El Hamichi Sophia, Negron Catherin, Berrocal Audina M

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis commonly inherited in an autosomal dominant fashion. Up to 50% of FEVR cases are linked to known genetic mutations affecting retinal vasculature development. PURPOSE: To report a case, a novel pathogenic variant of the ZNF408 gene associated with a case of FEVR in a...

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Source

Identifiers

PMID: 32530348
DOI: 10.1080/13816810.2020.1778735

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