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Article

Clinical Characterization of Autosomal Dominant and Autosomal Recessive PROM1 Mutation With a Report of Novel Mutation.

Ophthalmic surgery, lasers & imaging retina - 1 Aug 2022

Lee Ivan J, Abbey Cassie, Leys Monique

Abstract excerpt

BACKGROUND AND OBJECTIVE: This study aims to provide clinical characterization of PROM1 mutation with a report of novel mutation. PATIENTS AND METHODS: This study is a retrospective case series of six patients from a single institution with multimodal imaging, electroretinography, and genetic testing. RESULTS: Six patients aged 12 to 47 years were identified. Patients with autosomal recessive (AR) variants showed...

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Identifiers

PMID: 35951719
DOI: 10.3928/23258160-20220723-01

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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