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Article

Screening for CDG type Ia in Joubert syndrome.

Medical science monitor : international medical journal of experimental and clinical research - 1 Aug 2004

Morava Eva, Cser Beatrix, Kárteszi Judit, Huijben Karin, Szonyi Laszlo, Kosztolanyi Gyorgy, Wevers Ron

Abstract excerpt

BACKGROUND: The features of Joubert syndrome include hypotonia, ataxia, characteristic neuro-imaging findings, episodic hypoventilation, psychomotor retardation, and abnormal eye movements. Common symptoms in congenital disorders of glycosylation (CDG) type Ia are muscle hypotonia, cerebellar hypoplasia, ataxia, mental retardation, ophthalmologic involvement, failure to thrive, abnormal fat distribution, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15277997

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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