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    SubjectsPediatricsTuberous Sclerosis Complex TSC2 Deletion
    ClinicalPediatrics

    Tuberous Sclerosis Complex TSC2 Deletion

    1 MCQs in Pediatrics for NEET PG

    1 Medium
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    Sample Questions

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    A 3-year-old boy presents with infantile spasms and developmental delay. Skin examination reveals multiple hypomelanotic macules (ash-leaf spots) and facial angiofibromas. Brain MRI shows cortical tubers and a subependymal nodule near the foramen of Monro. Genetic testing confirms a deletion at the locus marked **A** in the diagram. Which of the following best explains why TSC2 mutations typically result in more severe disease manifestations compared to TSC1 mutations?

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