Diseases · Entity Annotation Prototype (beta)

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JS

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Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement

jmedgenet · abstract · 2025-11-21 · 1 matching annotations

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Joubert syndrome RNU4ATAC-related skeletal disorders JS

…esembling the ‘molar tooth sign’ (MTS). This is the hallmark of Joubert syndrome (JS), a neurodevelopmental ciliopathy with multiorgan involveme…

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JS

Articles mentioning JS

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement