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Article

Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.

American journal of medical genetics. Part A - 1 Feb 2022

Leoni Chiara, Blandino Rita, Delogu Angelica Bibiana, De Rosa Gabriella, Onesimo Roberta, Verusio Valeria, Marino Maria Vittoria, Lanza Gaetano Antonio, Rigante Donato, Tartaglia Marco, Zampino Giuseppe

Abstract excerpt

Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common features in patients affected by RASopathies. The aim of this study was to assess genotype- phenotype correlations, focusing on the cardiac features and outcomes of interventions for cardiac conditions, in a single-center cohort of 116 patients with molecularly confirmed diagnosis of RASopathy, and compare these findings with...

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Identifiers

PMID: 34643321
DOI: 10.1002/ajmg.a.62529

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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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