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List of works by Vianney Cortés-González

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

scientific article

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene

scientific article published on 24 August 2020

Cataract in a patient with 47,XYY sex chromosome aneuploidy.

scientific article published on 31 January 2018

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

scientific article published on 19 March 2019

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

scientific article published on 18 November 2018

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

scientific article published on 28 March 2019

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia

scientific article published on 10 October 2017

The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia

scientific article published on 06 December 2019

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations

scientific article published on 08 September 2016

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