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[Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2024

Yin Xue, Zhou Jun, Yi Haiying, Yang Shujie, Yin Nana

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic variant in a child with neurodevelopmental disorders (NDDs). METHODS: Clinical data of a child who had presented at Xiaogan Hospital Affiliated to Wuhan University of Science and Technology in December 2020 due to intermittent convulsions for over a year were retrospectively analyzed. Peripheral blood samples of the child and his parents were...

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Identifiers

PMID: 38171565
DOI: 10.3760/cma.j.cn511374-20221117-00798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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