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Article

Genotypes and phenotypes of Joubert syndrome and related disorders.

European journal of medical genetics - 1 Jan 2000

Valente Enza Maria, Brancati Francesco, Dallapiccola Bruno

Abstract excerpt

Joubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The neuroradiological hallmark of JS is a complex midbrain-hindbrain malformation known as the "molar tooth sign" (MTS), originating from the association of cerebellar vermis hypo-/aplasia, horizontally-oriented and thickened...

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Identifiers

PMID: 18164675
DOI: 10.1016/j.ejmg.2007.11.003

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

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