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Article

Clinical phenocopies of albinism.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2021

Dumitrescu Alina V, Pfeifer Wanda L, Drack Arlene V

Abstract excerpt

PURPOSE: To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis. METHODS: The medical records of patients seen at the Pediatric Inherited Eye Disease Clinic of the University of Iowa from 1980 to 2018 who were eventually discovered to have an incorrect diagnosis of OCA were reviewed retrospectively. RESULTS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34280564
DOI: 10.1016/j.jaapos.2021.03.015

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