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Article

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Journal of medical genetics - 1 Feb 2007

Zenker Martin, Lehmann Katarina, Schulz Anna Leana, Barth Helmut, Hansmann Dagmar, Koenig Rainer, Korinthenberg Rudolf, Kreiss-Nachtsheim Martina, Meinecke Peter, Morlot Susanne, Mundlos Stefan, Quante Anne S, Raskin Salmo, Schnabel Dirk, Wehner Lars-Erik, Kratz Christian P, Horn Denise, Kutsche Kerstin

Abstract excerpt

BACKGROUND: Noonan syndrome, cardio-facio-cutaneous syndrome (CFC) and Costello syndrome constitute a group of developmental disorders with an overlapping pattern of congenital anomalies. Each of these conditions can be caused by germline mutations in key components of the highly conserved Ras-MAPK pathway, possibly reflecting a similar pathogenesis underlying the three disorders. Germline mutations in KRAS have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

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Identifiers

PMID: 17056636
DOI: 10.1136/jmg.2006.046300
PMCID: PMC2598066

Genes

KRAS
BRAF
PTPN11

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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