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Article

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

American journal of medical genetics. Part A - 1 Mar 2014

Ekvall Sara, Sjörs Kerstin, Jonzon Anders, Vihinen Mauno, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional...

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Source

Identifiers

PMID: 24357598
DOI: 10.1002/ajmg.a.36313

Genes

PTPN11
BRAF
CBL
KRAS
NRAS
RAF1
SOS1
SPRED1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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