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Genetic Instability and Disease Progression of Indian Rett Syndrome Patients.

Molecular neurobiology - 1 Jul 2024

Gomathi Mohan, Dhivya Venkatesan, Padmavathi Vijayakumar, Pradeepkumar Murugasamy, Robert Wilson S, Kumar Nachimuthu Senthil, Balachandar Vellingiri

Abstract excerpt

Rett syndrome (RTT) is the rare neurodevelopmental disorder caused by mutations in methyl CpG binding protein 2 (MECP2) gene with a prevalence of 1:10,000 worldwide. The hallmark clinical features of RTT are developmental delay, microcephaly, repetitive behaviours, gait abnormalities, respiratory abnormalities and seizures. Still, the understanding on the diagnosis of RTT among clinicians are less. The aim of our...

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PMID: 38147229
DOI: 10.1007/s12035-023-03882-y

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