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Article

Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2026

Dai Yanyan, Zhang Jerry, Wu Dandan, Chen Ran, Li Rong

Abstract excerpt

BACKGROUND: The HUWE1 gene plays a crucial role in mediating embryonic development as well as the differentiation and proliferation of neural cells. Variants in the HUWE1 are closely associated with intellectual developmental disorder. This study is designed to characterize the clinical phenotype of neurodevelopmental disorder in a cohort of seven children associated with variants in the HUWE1. METHODS: Blood...

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Identifiers

PMID: 41664155
DOI: 10.1002/jdn.70106
PMCID: PMC12886591

Genes

HUWE1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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