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Article

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.

PloS one - 1 Jan 2021

Xia Hong, Huang Xiangjun, Deng Sheng, Xu Hongbo, Yang Yan, Liu Xin, Yuan Lamei, Deng Hao

Abstract excerpt

Heterotaxy (HTX), a condition characterized by internal organs not being arranged as expected relative to each other and to the left-right axis, is often accompanied with congenital heart disease (CHD). The purpose was to detect the pathogenic variants in a Chinese family with HTX and CHD. A non-consanguineous Han Chinese family with HTX and CHD, and 200 unrelated healthy subjects were enlisted. Exome sequencing...

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Identifiers

PMID: 34133440
DOI: 10.1371/journal.pone.0252786
PMCID: PMC8208527

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