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Article

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Clinical genetics - 1 May 2024

Shatokhina Olga, Bostanova Fatima, Bulakh Maria, Beresneva Anastasia, Ryzhkova Oxana

Abstract excerpt

The RREB1 is a zinc finger transcription factor that plays a role in regulating gene expression and inactivating MAPK signalling components. To date, no pathogenic variant in the RREB1 gene has been associated with any disease, but several cases of 6p terminal deletions affecting the RREB1 gene have been reported. In this study, we report the first case of RREB1-associated Noonan-like RASopathy caused by a...

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PMID: 38332451
DOI: 10.1111/cge.14496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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