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Article

[Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2016

Zhang Li-Na, Meng Zhe, He Zhan-Wen, Li Dong-Fang, Luo Xiang-Yang, Liang Li-Yang

Abstract excerpt

OBJECTIVE: To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs). METHODS: A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 2013 to September 2015 were enrolled, and the clinical manifestations and features of pathogenic CNVs were analyzed....

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PMID: 27655541
PMCID: PMC7389961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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