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Article

A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene.

American journal of medical genetics. Part A - 15 Dec 2006

Hüffmeier Ulrike, Zenker Martin, Hoyer Juliane, Fahsold Raimund, Rauch Anita

Abstract excerpt

Signs of neurofibromatosis type 1 (NF1) and Noonan syndrome (NS), two distinct autosomal dominant disorders, occur together in patients reported as Watson syndrome (WS), neurofibromatosis-Noonan syndrome (NFNS), partial LEOPARD syndrome, NS with features of NF1, and NF1 with Noonan-like features....

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Source

Identifiers

PMID: 17103458
DOI: 10.1002/ajmg.a.31547

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17103458-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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