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Article

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

Human molecular genetics - 1 Mar 2009

Mohapatra Bhagyalaxmi, Casey Brett, Li Hua, Ho-Dawson Trang, Smith Liana, Fernbach Susan D, Molinari Laura, Niesh Stephen R, Jefferies John Lynn, Craigen William J, Towbin Jeffrey A, Belmont John W, Ware Stephanie M

Abstract excerpt

NODAL and its signaling pathway are known to play a key role in specification and patterning of vertebrate embryos. Mutations in several genes encoding components of the NODAL signaling pathway have previously been implicated in the pathogenesis of human left-right (LR) patterning defects. Theref...

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Source

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Identifiers

PMID: 19064609
DOI: 10.1093/hmg/ddn411
PMCID: PMC2722226

Genes

NODAL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-19064609-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.PMID 19064609Read ↗

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