9 - CT disorders 1 Flashcards
1
Q
type of collagen affected by classical EDS
A
type 5
2
Q
which type of OI is a quantitative (instead of qualitative) defect of collagen?
A
type 1 (least severe)
3
Q
mutated gene in OI type 2
A
COL1A1
4
Q
most OI is what inheritance pattern?
A
AD (dominant negative effect of mutant collagen)
5
Q
tx of skeletal dysplasias (drug)
A
C-natriuretic peptide
can inc bone growth
