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Article

[Gillespie syndrome: an uncommon presentation of congenital aniridia].

Journal francais d'ophtalmologie - 1 Jan 2007

Defreyn A, Maugery J, Chabrier S, Coullet J

Abstract excerpt

We report here the case of a patient suffering from Gillespie syndrome (GS) (partial aniridia, mental retardation, and cerebellar ataxia). The typical presentation is based on fixed dilated pupils in a hypotonic child. Iris abnormalities distinguish GS from other forms of aniridia. At the time of initial presentation, neurological involvement and radiologic abnormalities could be absent or delayed. Genetic...

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Identifiers

PMID: 17287663
DOI: 10.1016/s0181-5512(07)89554-4

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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.

Related research

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[Gillespie syndrome: an uncommon presentation of congenital aniridia].PMID 17287663Read ↗

Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.Semantic proximity Read ↗

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Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.Semantic proximity Read ↗

[Present limitations of molecular biological diagnostics in Gillespie syndrome].Semantic proximity Read ↗

Ocular and nonocular findings in patients with aniridiaSemantic proximity Read ↗

Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.Semantic proximity Read ↗

[Clinical outcome of distinct Aicardi syndrome phenotypes].Semantic proximity Read ↗

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