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McCune–Albright syndrome

McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the Gs G protein-coupled receptor. These mutations lead to constitutive receptor activation. McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the Gs G protein-coupled receptor. These mutations lead to constitutive receptor activation. It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright.

[ "Diabetes mellitus", "Precocious puberty", "Fibrous dysplasia", "Gonadotropin-Independent Precocious Puberty" ]
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