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Article

Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.

European journal of human genetics : EJHG - 1 Dec 2018

Karjosukarso Dyah W, Cremers Frans P M, van Nouhuys C Erik, Collin Rob W J

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder, which is primarily characterized by abnormal development of retinal vasculature. In this study, we reported a subject presenting the clinical features of FEVR as well as microcephaly. Screening of the KIF11 gene in this patient revealed a novel heterozygous protein-truncating variant (c.2717del, p.(L906*), NM_004523.3). Segregation...

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Identifiers

PMID: 30181612
DOI: 10.1038/s41431-018-0243-y
PMCID: PMC6244075

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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