Article

Compromised striatal structure and function in mouse models of RARB-related disorder

2026-02-22

Abstract excerpt

Dominant variants in the retinoic acid receptor beta (RARB) gene cause a complex disorder known as RARB-related disorder (RARB-RD), characterized by multiple congenital anomalies, global developmental delay, and dystonia. RARB-RD variants have been classified as either gain-of-function (GOF) or dominant-negative (DN) based on their cell-based transcriptional responses to retinoids. To investigate the mechanisms u...

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Literature Corpus work: 8b89634c-faf8-539a-8932-c5048bcc8f2b
DOI: 10.64898/2026.02.20.706764

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