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Article

Phenotype expansion and neurological manifestations of neurobehavioural disease caused by a variant in RFX7.

European journal of medical genetics - 1 Jan 2023

Ledger Marissa L, Kaare Milja, Mailo Janette A, Jain-Ghai Shailly

Abstract excerpt

The RFX7 gene is one of eight genes within the regulatory factor X family. RFX7 is highly expressed in the brain and plays an important role in cell maturation and differentiation. It has only recently been implicated in disease in humans. Reports from 15 individuals have described RFX-associated phenotype as a neurobehavioural disease, manifesting primarily with global developmental delay and intellectual...

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PMID: 36334883
DOI: 10.1016/j.ejmg.2022.104657

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