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Article

Expanding the Clinical Spectrum of NR4A2-Related Disorder: A Systematic Literature Review and Case Series.

American journal of medical genetics. Part A - 1 Oct 2025

Borden Chloe, Nasir Muhammad Bin, Roberts Mary-Beth, Palange Lauren, Wang Xiangling

Abstract excerpt

NR4A2 encodes a nuclear transcription factor in the steroid-thyroid hormone-retinoid receptor family. Pathogenic variants in NR4A2 are rare and until now have been associated exclusively with neurodevelopmental phenotypes. A systematic literature review of NR4A2-related disorder was conducted using the PubMed and ClinVar databases. We also report two novel cases. Twenty-eight PubMed records and 55 ClinVar reports...

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Source

Identifiers

PMID: 40497586
DOI: 10.1002/ajmg.a.64145

Genes

NR4A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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