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Article

Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability.

European journal of medical genetics - 1 Sept 2026

Zhang Jingjing, He Jing, Pan Hairui, Wang Dan, Zhang Qinghua, Hao Shengju, Hui Ling, Zhang Chuan

Abstract excerpt

OBJECTIVE: To characterize the clinical phenotypes and identify the genetic etiology in four unrelated families affected by Turner-type X-linked intellectual disability (XLID). METHODS: Peripheral blood samples were collected from four probands and their parents. Genomic DNA was extracted, and a comprehensive genetic analysis was performed using trio-based Whole Exome Sequencing (WES) combined with low-pass Copy...

Read the complete abstract on PubMed

Topics

Humans
Female
Tumor Suppressor Proteins
Pedigree
Ubiquitin-Protein Ligases
Male
Turner Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Intellectual Disability

X-Linked Intellectual Disability

Child, Preschool

Phenotype

DNA Copy Number Variations

Source

Identifiers

PMID: 42526793
DOI: 10.1016/j.ejmg.2026.105097

Genes

HUWE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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