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Article

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

Ophthalmology - 1 Oct 2016

van Trier Dorothée C, Vos Anna M C, Draaijer Renske W, van der Burgt Ineke, Draaisma Jos M Th, Cruysberg Johannes R M

Abstract excerpt

PURPOSE: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). DESIGN: Prospective cross-sectional clinical and genetic study in a tertiary referral center. PARTICIPANTS: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. METHODS: All patients were examined by the same team following a detailed study...

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Source

Identifiers

PMID: 27521173
DOI: 10.1016/j.ophtha.2016.06.061

Genes

BRAF
PTPN11
SOS1
KRAS

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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