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Article

A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.

Molecular genetics & genomic medicine - 1 Sept 2020

Namavarian Amirpouyan, Eid Anas, Goh Elaine Suk-Ying, Thakur Varsha

Abstract excerpt

BACKGROUND: Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco-abdominal organs in the left-right axis and is associated with cardiovascular malformations. Mutations within DNAH11 can be associated with primary ciliary dyskinesia and heterotaxy syndromes. METHODS: We report a family of healthy, nonconsanguinous parents with subsequent pregnancies demonstrating a novel likely...

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Identifiers

PMID: 32633470
DOI: 10.1002/mgg3.1358
PMCID: PMC7507105

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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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