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Article

Joubert syndrome: A review

1 Jul 1992

Abstract excerpt

We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. We present the data regarding the clinical, neuroradiological, and ophthalmological manifestations and the prognosis of these 94 patients. We propose a classification of the patients with this...

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Identifiers

PMID: 1341417
DOI: 10.1002/ajmg.1320430415

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Source receipt: pubmed, retrieved 7 Sept 2026.

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