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The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.

Clinica chimica acta; international journal of clinical chemistry - 1 Jan 2023

Zhang Hongyun, Chen Xin, Tan Hu, Teng Yanling, Liu Dihua, Wu Jiayu, Duan Ranhui, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

BACKGROUND: Intellectual disability is a heterogeneous neurodevelopmental disorder with complex genetic architectures. Different sequential methodologies are usually applied to identify the genetic aetiologies of ID patients. METHODS: We collected 321 consecutive ID patients. All patients underwent karyotyping, while 293 and 164 cases further received copy number variation sequencing (CNV-seq) and whole-exome...

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PMID: 36368352
DOI: 10.1016/j.cca.2022.10.023

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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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