Gain Of Function Mutations Flashcards
1
Q
Familial non autoimmune hyperthyroidism
A
TSH
2
Q
Sporadic hyper-functional thyroid adenoma
A
TSH
3
Q
Retinitis pigmentosa
A
Rhodopsin
4
Q
Sporadic leydig cell cancer
A
LH
5
Q
Familial male precocious puberty
A
LH
6
Q
Hypocalcemia
A
Calcium sensing receptor
7
Q
Jansen metaphyseal chondrodysplasia
A
PTH