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Pathology Practice MCQs

Browse 15,526 high-yield clinical questions in Pathology. Includes detailed explanations, options, and topic tags.

#14803 Genetics

A 1-year-old female infant has failure to thrive, poor neurologic development, and poor motor function. Physical examination shows a "cherry red" spot on the macula of the retina. The infant's muscle tone is poor. Both parents and a brother and sister are healthy, with no apparent abnormalities. One brother with a similar condition died at the age of 18 months. This genetic disorder most likely resulted from a mutation involving a gene encoding for which of the following?

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