Joubert syndrome with autism in two siblings: A rare presentation

Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported s...

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Veröffentlicht in:Indian journal of psychiatry 2016-01, Vol.58 (1), p.90-92
Hauptverfasser: Raghavan, D Vijaya, Doshi, V Vimal, Nambi, Shanthi
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Sprache:eng
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