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Article

Ras/MAPK syndromes and childhood hemato-oncological diseases.

International journal of hematology - 1 Jan 2013

Aoki Yoko, Matsubara Yoichi

Abstract excerpt

Noonan syndrome (NS) is an autosomal-dominant disease characterized by distinctive facial features, webbed neck, cardiac anomalies, short stature and cryptorchidism. NS exhibits phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Germline mutations of genes encoding proteins in the RAS/mitogen-activated protein kinase (MAPK) pathway cause NS and related disorders. Germline...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23250860
DOI: 10.1007/s12185-012-1239-y

Genes

KRAS
BRAF
CBL
HRAS
NRAS
PTPN11
RAF1
SOS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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