Collagen disorders Quiz: Ace Your Exams
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A 9-month-old boy is brought to the office by his parents for a routine health examination. He was born via an uncomplicated vaginal delivery at 39-weeks gestational age to a 25-year-old woman. Past medical history is notable for multiple seizures episodes that occurred when the patient had mild fevers. Family history is noncontributory. The patient’s weight, height, and head size were found to be between the 5-15th percentile of standard growth curves. Physical examination reveals a depressed nasal bridge, hypopigmented areas of skin, as well as depigmented, brittle hair. Diffuse muscle hypotonia is also noted. Genetic testing reveals that the patient has a connective tissue disorder caused by impaired copper absorption and transport. A mutation in which of the following genes is the most likely to account for this patient’s symptoms?
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