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Article

Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES).

Medical science monitor : international medical journal of experimental and clinical research - 5 Mar 2018

Liu Yong, Cao Yu, Li Yaxiong, Lei Dongyun, Li Lin, Hou Zong Liu, Han Shen, Meng Mingyao, Shi Jianlin, Zhang Yayong, Wang Yi, Niu Zhaoyi, Xie Yanhua, Xiao Benshan, Wang Yuanfei, Li Xiao, Yang Lirong, Wang Wenju, Jiang Lihong

Abstract excerpt

BACKGROUND Recently, mutations in several genes have been described to be associated with sporadic ASD, but some genetic variants remain to be identified. The aim of this study was to use whole-exome sequencing (WES) combined with bioinformatics analysis to identify novel genetic variants in cases of sporadic congenital ASD, followed by validation by Sanger sequencing. MATERIAL AND METHODS Five Han patients with...

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Source

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Identifiers

PMID: 29505555
DOI: 10.12659/msm.908923
PMCID: PMC5849354

Genes

FOXL2
HYDIN
MYH6

Provenance

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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