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Article

Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

Genome medicine - 30 May 2018

Liu Chunjie, Cao Ruixue, Xu Yuejuan, Li Tingting, Li Fen, Chen Sun, Xu Rang, Sun Kun

Abstract excerpt

BACKGROUND: Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory. However, the underlying etiology and mechanisms in the majority of Htx cases remain unknown. The aim of this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29843777
DOI: 10.1186/s13073-018-0549-y
PMCID: PMC5975672

Genes

DNAH10
NUMB
PACRG
TCTN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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