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Article

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Molecular genetics & genomic medicine - 1 Nov 2020

Xie Hua, Liu Fang, Zhang Yu, Chen Qian, Shangguan Shaofang, Gao Zhijie, Wu Nan, Wang Jian, Cui Xiaodai, Wang Lin, Chen Xiaoli

Abstract excerpt

BACKGROUND: Neurodevelopmental disorders (NDDs) are a group of disorders with high genetic and phenotypic heterogeneities. The 16p11.2 microdeletion has been implicated as an important genetic risk factor for NDDs. METHODS: Multiple genetic tests were used to detect the 16p11.2 microdeletion from 918 Chinese children with NDDs. Targeted sequencing of genes in the 16p11.2 interval was performed in all carriers of...

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Identifiers

PMID: 32870608
DOI: 10.1002/mgg3.1485
PMCID: PMC7667312

Genes

PRRT2

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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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