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Article

Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.

American journal of medical genetics. Part A - 1 Aug 2014

Sana Maria Elena, Spitaleri Andrea, Spiliotopoulos Dimitrios, Pezzoli Laura, Preda Laura, Musco Giovanna, Ferrazzi Paolo, Iascone Maria

Abstract excerpt

Biventricular hypertrophy (BVH) is a disease state characterized by the thickening of the ventricle walls. The differential diagnosis of BVH with other congenital and familial diseases in which increased ventricle wall thickness is a prominent clinical feature is fundamental due to its therapeutic and prognostic value, mainly during infancy. We describe a 2-month-old infant presenting BVH. Using exome sequencing,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24782337
DOI: 10.1002/ajmg.a.36588

Genes

RAF1

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.

Related research

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Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome.PMID 24782337Read ↗

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Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.Semantic proximity Read ↗

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Domain-Specific Phenotypic Profiles in RAF1-Related Noonan SyndromeSemantic proximity Read ↗

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genesSemantic proximity Read ↗

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