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Article

Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis.

Ophthalmic genetics - 1 Jan 2015

Palamar Melis, Onay Huseyin, Ertam Ilgen, Ates Esra Arslan, Dereli Tugrul, Ozkinay Ferda, Yagci Ayse

Abstract excerpt

PURPOSE: To evaluate the ocular surface and topography findings of lamellar ichthyosis, and to investigate the correlation of these findings with mutations in TGM1, CYP4F22 and NIPAL4 genes. METHODS: Twelve patients with lamellar ichthyosis were evaluated. Routine ophthalmic examination including Schirmer 1, tear break-up time and ocular surface staining score, topography, and genetic evaluation for coding exons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24397709
DOI: 10.3109/13816810.2013.870215

Genes

NIPAL4
TGM1

Variants

Provenance

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