Gain Of Function Mutations Flashcards

1
Q

Familial non autoimmune hyperthyroidism

A

TSH

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2
Q

Sporadic hyper-functional thyroid adenoma

A

TSH

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3
Q

Retinitis pigmentosa

A

Rhodopsin

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4
Q

Sporadic leydig cell cancer

A

LH

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5
Q

Familial male precocious puberty

A

LH

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6
Q

Hypocalcemia

A

Calcium sensing receptor

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7
Q

Jansen metaphyseal chondrodysplasia

A

PTH

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