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Accueil > Bibliographie > McCune-Albright Syndrome : A Detailed Pathological and Genetic Analysis of (...)

McCune-Albright Syndrome : A Detailed Pathological and (...)

J Clin Endocrinol Metab. 2014 Oct ;99(10):E2029-38
McCune-Albright Syndrome : A Detailed Pathological and Genetic Analysis of Disease Effects in an Adult Patient.
Vasilev V, Daly AF, Thiry A, Petrossians P, Fina F, Rostomyan L, Silvy M, Enjalbert A, Barlier A, Beckers A.

McCune Albright syndrome (MAS) is a clinical association of endocrine and nonendocrine anomalies caused by postzygotic mutation of the GNAS1 gene, leading to somatic activation of the stimulatory α-subunit of G protein (Gsα). Important advances have been made recently in describing pathological characteristics of many MAS-affected tissues, particularly pituitary, testicular, and adrenal disease. Other rarer disease related features are emerging.


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