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Article

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.

Investigative ophthalmology & visual science - 2 Nov 2020

Shurygina Maria F, Simonett Joseph M, Parker Maria A, Mitchell Amanda, Grigorian Florin, Lifton Jacob, Nagiel Aaron, Shpak Alexander A, Dadali Elena L, Mishina Irina A, Weleber Richard G, Yang Paul, Pennesi Mark E

Abstract excerpt

Purpose: The purpose of this study was to analyze the natural history and phenotypic overlap of patients with microcephaly and a chorioretinopathy or familial exudative vitreoretinopathy (FEVR) ocular phenotype caused by mutations in KIF11, TUBGCP4, or TUBGCP6. Methods: Patients diagnosed with congenital microcephaly and chorioretinopathy or FEVR were included. Molecular investigations consisted of targeted...

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Identifiers

PMID: 33137195
DOI: 10.1167/iovs.61.13.2
PMCID: PMC7645200

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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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