Genetics of Sudden Death Flashcards

1
Q

What is the mutation in Loeys Dietz syndrome and what will the phenotype be?

A

TFG-beta receptor (TBR) mutation pathway mutation
Tortuous carotid blood vessels
Bifid uvula
Increased risk of aortic aneurysms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly