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Article

A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.

BMC medical genomics - 23 May 2023

Yu Lihua, Ding Hongke, Liu Min, Liu Ling, Zhang Qi, Lu Jian, Guo Fangfang, Zhang Yan

Abstract excerpt

BACKGROUND: A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV calling from WES data, WES has emerged as a more powerful and cost-effective molecular diagnostic tool, which has been widely used for the diagnosis of genetic diseases, especially NDDs. To our...

Topics

Humans
Pedigree
Asian People
Heterozygote
Neurodevelopmental Disorders
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37221554
DOI: 10.1186/s12920-023-01534-7
PMCID: PMC10207759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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