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Article

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

Investigative ophthalmology & visual science - 1 Aug 2017

Birtel Johannes, Gliem Martin, Mangold Elisabeth, Tebbe Lars, Spier Isabel, Müller Philipp L, Holz Frank G, Neuhaus Christine, Wolfrum Uwe, Bolz Hanno J, Charbel Issa Peter

Abstract excerpt

Purpose: This study sought to characterize the ophthalmic and extraocular phenotype in patients with known and novel KIF11 mutations. Methods: Four patients (3, 5, 36, and 38 years of age, on father-daughter constellation) from three unrelated families were characterized by retinal examination including multimodal retinal imaging, investigation for syndromic disease manifestations, and targeted next-generation...

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Source

Identifiers

PMID: 28785766
DOI: 10.1167/iovs.17-21679

Genes

KIF11

Provenance

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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