Article

Novel Frameshift Mutation in ZEB1 in a Family with a Severe Form of Posterior Polymorphous Corneal Dystrophy (PPCD)

2024-10-22

Abstract excerpt

<h4>Purpose: </h4> Report of a novel genetic variant in a family with an unusual clinical presentation of posterior polymorphous corneal dystrophy (PPCD). <h4>Methods:</h4> Documentation of clinical findings of the anterior and posterior segments using slit lamp analysis and imaging tools (Scheimpflug imaging, optical coherence tomography), along with documentation of best spectacle corrected visual acuity (BSCVA;...

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Literature Corpus work: ddb6974b-bdcc-5b9b-8683-730ad3b5e448
DOI: 10.20944/preprints202410.1633.v1

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