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Article

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

Arquivos brasileiros de endocrinologia e metabologia - 1 Apr 2007

Ferreira Lize V, Souza Silvia A L, Montenegro Luciana R, Arnhold Ivo J P, Pasqualini Titania, Heinrich Juan Jorge, Keselman Ana Claudia, Mendonça Berenice B, Jorge Alexander A L

Abstract excerpt

INTRODUCTION: Around 50% of Noonan syndrome (NS) patients present heterozygous mutations in the PTPN11 gene. AIM: To evaluate the frequency of mutations in the PTPN11 in patients with NS, and perform phenotype-genotype correlation. PATIENTS: 33 NS patients (23 males). METHODS: DNA was extracted f...

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Source

Identifiers

PMID: 17546245
DOI: 10.1590/s0004-27302007000300014

Genes

PTPN11
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17546245-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].PMID 17546245Read ↗

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