CTD Flashcards
1
Q
Ehlers-Danlos Syndrome
A
↓ Lysyl Hydroxylase
2
Q
Kyphoscoliosis
A
↓ Lysyl Hydroxylase*
3
Q
Menkes Syndrome /
Kinky Hair Syndrome
A
↓ Lysyl Oxidase
4
Q
Kindler’s Syndrome
A
↓ Anchoring Fibrils
5
Q
Alport’s Syndrome
A
Damage of basement membrane of glomerulus
6
Q
Marfan Syndrome
A
Gene mutation for Fibrillin-1
7
Q
Genetic Emphysema /
Alpha-1 Antitrypsin
Deficiency (AATD)
A
↓ α-1 Antitrypsin
