A restricted spectrum of NRAS mutations causes Noonan syndrome.

doi:10.1038/ng.497

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Article

A restricted spectrum of NRAS mutations causes Noonan syndrome.

Nature genetics - 1 Jan 2010

Cirstea Ion C, Kutsche Kerstin, Dvorsky Radovan, Gremer Lothar, Carta Claudio, Horn Denise, Roberts Amy E, Lepri Francesca, Merbitz-Zahradnik Torsten, König Rainer, Kratz Christian P, Pantaleoni Francesca, Dentici Maria L, Joshi Victoria A, Kucherlapati Raju S, Mazzanti Laura, Mundlos Stefan, Patton Michael A, Silengo Margherita Cirillo, Rossi Cesare, Zampino Giuseppe, Digilio Cristina, Stuppia Liborio, Seemanova Eva, Pennacchio Len A, Gelb Bruce D, Dallapiccola Bruno, Wittinghofer Alfred, Ahmadian Mohammad R, Tartaglia Marco, Zenker Martin

Abstract excerpt

Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced sti...

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Identifiers

PMID: 19966803
DOI: 10.1038/ng.497
PMCID: PMC3118669

Genes

NRAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19966803-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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