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Article

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.

Human mutation - 1 Jan 2024

Replogle Maria R, Thompson Samuel, Reis Linda M, Semina Elena V

Abstract excerpt

Retinoic acid receptor beta (RARB) is a transcriptional regulator crucial for coordinating retinoic acid- (RA-) mediated morphogenic movements, cell growth, and differentiation during eye development. Loss- or gain-of-function RARB coding variants have been associated with microphthalmia, coloboma, and anterior segment defects. We identified a de novo variant c.157+1895G>A located within a conserved region (CR1)...

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Identifiers

PMID: 39450403
DOI: 10.1155/2024/6619280
PMCID: PMC11501074

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