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Article

Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2010

Tumurkhuu Munkhtuya, Saitoh Makiko, Sato Atsushi, Takahashi Kan, Mimaki Masakazu, Takita Junko, Takeshita Kazuhide, Hama Takehiro, Oka Akira, Mizuguchi Masashi

Abstract excerpt

BACKGROUND: Germline mutations in several members of RAS/RAF/MEK/ERK pathway cause clinically similar genetic disorders, including Noonan syndrome (NS), Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFC). Each of these syndromes has a wide spectrum of molecular etiology. The aim of the present study was to conduct a comprehensive genetic analysis of RAS/RAF/MEK/ERK pathway in these syndromes....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20030748
DOI: 10.1111/j.1442-200X.2009.03020.x

Genes

SOS1
HRAS
PTPN11
BRAF
KRAS
NRAS
RAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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