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

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

doi:10.1186/s13073-024-01312-9

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Abstract

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 number of individuals with laterality defects.

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Dardas et al. (2024) studied this question.

synapsesocial.com/papers/68e708c0b6db6435876820a0 https://doi.org/10.1186/s13073-024-01312-9

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

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Abstract

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Cite This Study

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

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Abstract

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Cite This Study

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