Article

Expansion of the Genotypic and Phenotypic Spectrum of <em>TCTN3</em> Related Joubert Syndrome

2025-05-23

Abstract excerpt

<h4>Background: </h4> /Objectives: Joubert syndrome (JS, MIM 213300) is a rare genetic condi-tion characterized by respiratory control disturbances, abnormal eye movements, ataxia, cognitive impairment, and the notable agenesis of the cerebellar vermis. The molar tooth sign visible in magnetic resonance imaging of the brain serves as a diag-nostic tool for JS. Variants in TCTN3 gene can lead to the development of...

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Literature Corpus work: ec206e8e-f8e3-5c4e-a0d7-8fbb9b4bf764
DOI: 10.20944/preprints202505.1854.v1

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