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3 Cards in this Set
- Front
- Back
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Mosaicism |
McCune-Albright syndrome due to Gs-protein activating mutation affects skin: unilateral café-au-lait spots bone: polyostotic fibrous dysplasia endocrine: eg. precocious puberty |
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Angelman syndrome |
mutation or deletion of UBE3A gene on chromoseome 15 |
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cystic fibrosis treatment |
albuterol (β-2 agonist), dornase alfa, hypertonic saline (facilitates mucus clearance). azithromycin, ibuprofen (slows disease progression) in patients with Phe508 deletion: combination of lumacaftor (corrects misfolded proteins and improves their transport to cell surface) and ivacaftor (opens Cl- channels ---> improved chloride transport) |
