Neurofibromatosis Quiz: Ace Your Exams

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A scientist is researching the downstream effects of various mutations in the guanosine triphosphate hydrolase (GTP-ase) proteins family. She creates mutations in mice genes coding for these GTPase-activating proteins and follows their development. She concludes that mutations in those genes lead to unregulated Ras activity. If the same mutations occur in humans, which of the following manifestations will be expected?

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Bronchiectasis; situs inversus; sperm immotility

Brittle bones; conductive hearing loss; blue sclerae

Lisch nodules; neurofibromas; scoliosis

Recurrent pulmonary infections; malabsorption; pancreatic insufficiency

Bilateral vestibular schwannomas; juvenile cataracts; ependymomas