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5882 Pathology

A 15-year-old girl has developed multiple nodules on her skin over the past 10 years. On physical examination, there are 20 scattered, 0.3-cm to 1-cm, firm nodules on the patient’s trunk and extremities. There are 12 light brown macules averaging 2 to 5 cm in diameter on the skin of the trunk. Slit-lamp examination shows pigmented nodules in the iris. A sibling and a parent are similarly affected. Genetic analysis shows a loss-of-function mutation. Which of the following inheritance patterns is most likely to be present in this family?

AAutosomal dominant
BAutosomal recessive
CMitochondrial
DMultifactorial
Pathology
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