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Article

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

Genome medicine - 3 Apr 2024

Dardas Zain, Fatih Jawid M, Jolly Angad, Dawood Moez, Du Haowei, Grochowski Christopher M, Jones Edward G, Jhangiani Shalini N, Wehrens Xander H T, Liu Pengfei, Bi Weimin, Boerwinkle Eric, Posey Jennifer E, Muzny Donna M, Gibbs Richard A, Lupski James R, Coban-Akdemir Zeynep, Morris Shaine A

Abstract excerpt

BACKGROUND: NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality defects in humans. To further explore this association and improve genetic diagnosis, the study aims to identify and characterize a broader range of NODAL variants in a large...

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Identifiers

PMID: 38570875
DOI: 10.1186/s13073-024-01312-9
PMCID: PMC10988827

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