A patient presents with elevated total cholesterol, subcutaneous xanthomas, and a positive family history of similar findings. Triglyceride levels are normal (<140 mg/dL). What is the most likely type of familial dyslipidemia?
A patient presents with skin cancer and hyperpigmentation that worsens with sunlight exposure. Which of the following DNA repair mechanisms is most likely defective in this condition?
A patient presents with anemia, positive Romberg sign, and other neurological findings suggestive of vitamin B12 deficiency. Laboratory findings show elevated homocysteine levels. Which amino acid is likely to be deficient in this patient?
A child presents with a history of fractures, multiple petechiae, perifollicular hemorrhages, and gum bleeding. Which of the following enzyme defects is involved?
A 22-year-old tall male presents with long limbs, increased arm span, hypermobile joints, and high-arched palate. On examination, he has lens subluxation and a diastolic murmur suggestive of aortic root dilation. Which of the following genes is most likely mutated in this condition?
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