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Article

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

American journal of medical genetics. Part A - 1 Jun 2009

Thiel Christian, Wilken Martin, Zenker Martin, Sticht Heinrich, Fahsold Raimund, Gusek-Schneider Gabriele-Charlotte, Rauch Anita

Abstract excerpt

Neurofibromatosis-Noonan syndrome (NFNS), an entity which combines both features of Noonan syndrome (NS) and neurofibromatosis type 1 (NF1), was etiologically unresolved until recent reports demonstrated NF1 mutations in the majority of patients with NFNS. The phenotypic overlap was explained by...

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Identifiers

PMID: 19449407
DOI: 10.1002/ajmg.a.32837

Genes

PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19449407-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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