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Article

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Revista de neurologia - 1 May 2015

Ejarque Ismael, Millán-Salvador José M, Oltra Silvestre, Pesudo-Martínez José V, Beneyto Magdalena, Pérez-Aytés Antonio

Abstract excerpt

INTRODUCTION: Noonan syndrome (NS) and other syndromes with a similar phenotype, such as LEOPARD, cardiofaciocutaneous, Costello and Legius, are associated to mutations in genes included in the RAS/MAPK pathway (RASopathies), which is an important signalling pathway related to cell proliferation....

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Share to LEOPARD Syndrome
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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

Share to Proto-Oncogene Proteins p21(ras)

Source

Identifiers

PMID: 25912702

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25912702-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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