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Article

[Present limitations of molecular biological diagnostics in Gillespie syndrome].

Klinische Padiatrie - 1 Jan 2000

Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H

Abstract excerpt

BACKGROUND: Gillespie syndrome is the phenotype partial aniridia, cerebellar ataxia and mental retardation. Further malformations can be associated, mainly females are affected. Inheritance and genetics of the syndrome are unknown. Autosomal dominant aniridia is an important differential diagnosis of fixed dilated pupils and is usually associated by mutations of the PAX6 gene. In 1998 the first report of a...

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Source

Identifiers

PMID: 11305191
DOI: 10.1055/s-2001-12875

Genes

PAX6

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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