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Article

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

Human mutation - 1 Apr 2012

Tan Huay L, Glen Elise, Töpf Ana, Hall Darroch, O'Sullivan John J, Sneddon Linda, Wren Christopher, Avery Peter, Lewis Richard J, ten Dijke Peter, Arthur Helen M, Goodship Judith A, Keavney Bernard D

Abstract excerpt

Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of the specific genetic factors involved are unknown. Postulating that rare variants in genes in critical cardiac developmental pathways predispose to CVM, we systematically surveyed three genes of the bone morphogenetic protein (BMP) signaling pathway for novel variants. Exonic, splice site, and untranslated regions of...

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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: 22275001
DOI: 10.1002/humu.22030
PMCID: PMC3492913

Genes

SMAD6
BMPR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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