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Article

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1.

Clinical genetics - 1 Dec 2009

Nyström A M, Ekvall S, Allanson J, Edeby C, Elinder M, Holmström G, Bondeson M L, Annerén G

Abstract excerpt

Noonan syndrome (NS) and neurofibromatosis type I (NF1) belong to a group of clinically related disorders that share a common pathogenesis, dysregulation of the RAS-MAPK pathway. NS is characterized by short stature, heart defect, pectus deformity and facial dysmorphism, whereas skin manifestations, skeletal defects, Lisch nodules and neurofibromas are characteristic of NF1. Both disorders display considerable...

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Source

Identifiers

PMID: 19845691
DOI: 10.1111/j.1399-0004.2009.01233.x

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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