Loeys Dietz

Question 1

dedicnost

Answer 1

• autosomal dominant
• genetic connective tissue disorder.
• features similar to Marfan syndrome and Ehlers–Danlos syndrome.[
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Question 2

projevy

Answer 2

• arterial tortuosity (winding course of blood vessels)
• widely spaced eyes (hypertelorism),
• wide or split uvula
• aneurysms at the aortic root.
• Other features may include cleft palate and a blue/gray appearance of the white of the eyes.
• Cardiac defects and club foot may be noted at birth

Question 3

geny

Answer 3

TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3
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