116.2.16 diseases caused by mutations in receptors

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grave’s disease (hyperthyroidism)

thyroid stimulating hormone receptor is mutated

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jansen’s metaphyseal chondrodysplasia

parathyroid hormone receptor is mutated

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ovarian dygenesis type I

follicle stimulating hormone receptor

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familial glucocorticoid deficiency

melanocortin/adrenocorticotropic hormone receptor

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familial male precocious puberty

lutenizing hormone receptor

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familial hypocalciuric hypercalcemia

antidiuretic hormone receptor

  • all calcium in blood, not enough in urine

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hypogonadotropic hypogonadism

gonadotropin-releasing hormone receptor