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Article

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.

BMC medical genetics - 14 Oct 2015

Ekvall Sara, Wilbe Maria, Dahlgren Jovanna, Legius Eric, van Haeringen Arie, Westphal Otto, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

BACKGROUND: Noonan syndrome (NS), a heterogeneous developmental disorder associated with variable clinical expression including short stature, congenital heart defect, unusual pectus deformity and typical facial features, is caused by activating mutations in genes involved in the RAS-MAPK signaling pathway. CASE PRESENTATION: Here, we present a clinical and molecular characterization of a small family with Noonan...

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Source

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Identifiers

PMID: 26467218
DOI: 10.1186/s12881-015-0239-1
PMCID: PMC4607013

Genes

NRAS
BRAF
CBL
HRAS
KRAS
PTPN11
RAF1
SOS1
SPRED1

Variants

Provenance

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