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Article

Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?

Clinical genetics - 1 Feb 2014

Nowaczyk M J M, Thompson B A, Zeesman S, Moog U, Sanchez-Lara P A, Magoulas P L, Falk R E, Hoover-Fong J E, Batista D A S, Amudhavalli S M, White S M, Graham G E, Rauen K A

Abstract excerpt

RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS. We define the phenotype 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: 23379592
DOI: 10.1111/cge.12116
PMCID: PMC4480871

Genes

BRAF
KRAS

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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