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Mutation e268x - PowerPoint PPT Presentation

Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances

Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances. Laboratory: normocalcemia ?serum parathyroid hormone ? thyroid-stimulating hormone ? human calcitonin. GNAS gene. Mutation E268X in GNAS gene. ?. Plaque-like osteoma Albright hereditary osteodystrophy.

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Mutation e268x - PowerPoint PPT Presentation

Case 8 Boy, 4 yo Multiple cutaneous and subcutaneous hard resistances