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Article

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic genetics - 1 Jun 2018

Zazo Seco Celia, Plaisancié Julie, Lupasco Tatiana, Michot Caroline, Pechmeja Jacmine, Delanne Julian, Cottereau Edouard, Ayuso Carmen, Corton Marta, Calvas Patrick, Ragge Nicola, Chassaing Nicolas

Abstract excerpt

BACKGROUND: Congenital cataract displays large phenotypic (syndromic and isolated cataracts) and genetic heterogeneity. Mutations in several transcription factors involved in eye development, like PITX3, have been associated with congenital cataracts and anterior segment mesenchymal disorders. MATERIALS AND METHODS: Targeted sequencing of 187 genes involved in ocular development was performed in 96 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29405783
DOI: 10.1080/13816810.2018.1430243

Genes

PITX3

Variants

Provenance

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