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Article

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.

Archives of disease in childhood - 1 Sept 2010

Wright Emma M M Burkitt, Kerr Bronwyn

Abstract excerpt

The disorders described as the neuro-cardio-facio-cutaneous conditions (NCFCs) may all present with symptoms that are common in paediatric practice. They result from germline mutations in genes encoding kinases and other proteins interacting in the RAS-MAPK pathway. This review summarises these disorders, discussing their presenting features and clinical course, identifying overarching similarities and,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20371595
DOI: 10.1136/adc.2009.160069

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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