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Article

[Genetic analysis of a case of chromosome 14q microdeletion].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Zhang Jie, Xu Wangming, Gui Juan, Huang Xiaodong

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with autism, mental retardation and epilepsy. METHODS: Conventional G-banding chromosomal analysis was carried out. Chromosomal variation was also detected by single nucleotide polymorphism microarray (SNP array). Pathogenic mutations were screened by high-throughput sequencing and validated by Sanger sequencing. Pathologic significance of the candidate...

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Source

Identifiers

PMID: 32034750
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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