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Syeda Nishat Fathima Damera Neha

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#gene editing Open access Aug 2026

Recent Advances in Joubert Syndrome: Genetic Insights, Clinical Management, and Emerging Therapeutic Strategies

Joubert syndrome (JS) is a rare, genetically heterogeneous autosomal recessive ciliopathy characterized by the pathognomonic molar tooth sign (MTS) on brain magnetic resonance imaging, resulting from cerebellar vermis hypoplasia or aplasia and abnormal superior cerebellar peduncles. Since its first description by Marie...

Syeda Nishat Fathima Damera Neha · 0 citations
#gene editing Open access Aug 2026

Recent Advances in Joubert Syndrome: Genetic Insights, Clinical Management, and Emerging Therapeutic Strategies

Joubert syndrome (JS) is a rare, genetically heterogeneous autosomal recessive ciliopathy characterized by the pathognomonic molar tooth sign (MTS) on brain magnetic resonance imaging, resulting from cerebellar vermis hypoplasia or aplasia and abnormal superior cerebellar peduncles. Since its first description by Marie...

Syeda Nishat Fathima Damera Neha · 0 citations

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