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Article

Aniridia with PAX6 mutations and narcolepsy.

Journal of sleep research - 1 Dec 2020

Berntsson Shala Ghaderi, Kristoffersson Anna, Daniilidou Makrina, Dahl Niklas, Ekström Curt, Semnic Robert, Markström Agneta, Niemelä Valter, Partinen Markku, Hallböök Finn, Landtblom Anne-Marie

Abstract excerpt

PAX6 gene mutations cause a variety of eye and central nervous system (CNS) abnormalities. Aniridia is often accompanied by CNS abnormalities such as pineal gland atrophy or hypoplasia, leading to disturbed circadian rhythm and sleep disorders. Less is known on the coincidence of narcolepsy in this patient group. We aimed to find out whether the circadian rhythm or sleep-wake structure was affected in patients...

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Identifiers

PMID: 31943460
DOI: 10.1111/jsr.12982

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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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