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Article

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.

American journal of medical genetics. Part A - 1 Oct 2021

Pires Lucas Vieira Lacerda, Bordim Renata de Almeida, Maciel Maria Beatriz Rabelo, Tanaka Ana Cristina Sayuri, Yamamoto Guilherme Lopes, Honjo Rachel Sayuri, Kim Chong Ae, Bertola Debora Romeo

Abstract excerpt

Noonan syndrome (NS) is a Mendelian phenotype, member of a group of disorders sharing neurocardiofaciocutaneous involvement, known as RASopathies, caused by germline variants in genes coding for components of the RAS/MAPK signaling pathway. Recently, a novel gene of the RAS family (MRAS) was reported to be associated with NS in five children, all of them presenting, among the cardinal features of NS, the same...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34080768
DOI: 10.1002/ajmg.a.62376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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