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Article

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.

Orphanet journal of rare diseases - 27 Oct 2025

Xie Changning, Kessi Miriam, Liu Fangyun, He Fang, Peng Jing

Abstract excerpt

BACKGROUND: Pathogenic variants in GRIN2B are predominantly associated with neurodevelopmental disorders (NDDs). However, our understanding of the genotype-phenotype correlations and the optimal treatment strategies is limited. METHODS: We collected clinical data of seven new patients from the Xiangya Hospital and conducted an extensive literature review. Subsequently, we carried out comparisons of clinical...

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Identifiers

PMID: 41146259
DOI: 10.1186/s13023-025-04055-x
PMCID: PMC12560415

Genes

GRIN2B

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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