USMLE (Fach) / Biochemistry - Genetics (Lektion)
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McCune-Albright syndrome
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Mosaic disease arising from somatic mutations affecting G-protein signaling.
Presentation:- Unilateral café-au-lait spots- Polyostotic fibrous dysplasia (bone is replaced by collagen and fibroblasts)- Multiple endocrine abnormalities (eg, precocious puberty)
- Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism.
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