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Article

Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

Journal of child neurology - 1 Aug 2014

Zarate Yuri A, Lichty Angie W, Champion Kristen J, Clarkson L Kate, Holden Kenton R, Matheus M Gisele

Abstract excerpt

Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydroc...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23877478
DOI: 10.1177/0883073813492384

Genes

RAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23877478-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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