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Article

Atrioventricular canal defect in patients with RASopathies.

European journal of human genetics : EJHG - 1 Feb 2013

Digilio Maria Cristina, Romana Lepri Francesca, Dentici Maria Lisa, Henderson Alex, Baban Anwar, Roberti Maria Cristina, Capolino Rossella, Versacci Paolo, Surace Cecilia, Angioni Adriano, Tartaglia Marco, Marino Bruno, Dallapiccola Bruno

Abstract excerpt

Congenital heart defects affect 60-85% of patients with RASopathies. We analysed the clinical and molecular characteristics of atrioventricular canal defect in patients with mutations affecting genes coding for proteins with role in the RAS/MAPK pathway. Between 2002 and 2011, 101 patients with cardiac defect and a molecularly confirmed RASopathy were collected. Congenital heart defects within the spectrum of...

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Source

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Identifiers

PMID: 22781091
DOI: 10.1038/ejhg.2012.145
PMCID: PMC3548264

Genes

PTPN11
RAF1

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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