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Article

Ophthalmic Findings in Patients with Autosomal Recessive Lamellar Ichthyosis due to TGM1 Mutations in an Isolated Population

2023-04-05

Abstract excerpt

<h4>Purpose: </h4> To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. <h4>Methods: </h4>: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico....

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Literature Corpus work
85520fab-5e56-5b83-a064-a0bb93054fbb
DOI
10.21203/rs.3.rs-2769270/v1
Open publication

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Ophthalmic Findings in Patients with Autosomal Recessive Lamellar Ichthyosis due to TGM1 Mutations in an Isolated PopulationDOI 10.21203/rs.3.rs-2769270/v1
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