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Article

Ocular manifestations of Noonan syndrome.

Ophthalmic genetics - 1 Mar 2012

Marin Lenina da Rocha Pitta, da Silva Felipe Theodoro Bezerra Gaspar Carvalho, de Sá Luís Carlos Ferreira, Brasil Amanda Salem, Pereira Alexandre, Furquim Isabel Mosca, Kim Chong Ae, Bertola Débora Romeo

Abstract excerpt

PURPOSE: To describe the ophthalmological characteristics in a group of Noonan syndrome patients with proven mutations in the PTPN11 gene. METHODS: Thirty-five Noonan syndrome patients with PTPN11 gene mutations underwent ophthalmological exams, which consisted of external inspection, slit-lamp biomicroscopy examination and an ophthalmoscopic examination after instillation of 1.0% tropicamide or 1.0%...

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Source

Identifiers

PMID: 21815719
DOI: 10.3109/13816810.2011.593606

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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