QuestionSBA
QuestionChoice
Ehlers-Danlos syndrome occurs due to a genetic mutation in collagen, not fibrin. Different types of mutations in fibrin can cause bleeding disorders such as hypofibrinogenemia.
10024972
c
Fibrin
QuestionChoice
Ehlers-Danlos syndrome occurs due to a genetic mutation in collagen, not elastin. Loss of function mutations in the elastin gene can cause the heart defect supravalvular aortic stenosis.
10024973
d
Elastin
QuestionChoice
A mutation of the CFTR gene, otherwise known as the cystic fibrosis transmembrane conductance regulator gene, causes cystic fibrosis. Ehlers-Danlos syndrome is caused by a genetic mutation of collagen.
10024971
b
Cystic fibrosis transmembrane conductance regulator (CFTR)
QuestionChoice
Enlers-Danlos syndrome is a group of inherited conditions that cause hypermobile joints, hyperelastic skin and fragile blood vessels. This occurs due to a genetic mutation of collagen.
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a
Collagen
QuestionChoice
Keratin is the building block of hair and nails. Mutations in keratin does not cause the development of Ehlers-Danlos syndrome.
10024974
e
Keratin
Concept
Chapter
2693
5814
Ehlers-Danlos syndrome
Topic
156
Medical Genetics
17392
A 20-year-old female presents to the emergency department as she has dislocated her shoulder. She has a past medical history of Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome is caused by a genetic mutation of which structure?
a