PMID: 18407162Sep 1, 1993Paper

McCune-Albright syndrome

Trends in Endocrinology and Metabolism : TEM
W F Schwindinger, M A Levine

Abstract

McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in G(s)alpha that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis, and therefore patients with MAS are mosaic. The identification of activating mutations of Gsa in liver, heart, and gastrointestinal tract of patients with MAS suggests a broader spectrum of clinical disease than previously appreciated.

Citations

Apr 16, 1998·Endocrinology and Metabolism Clinics of North America·D Zimmerman, A N Lteif
Feb 15, 2013·The New England Journal of Medicine·Stuart H Ralston
May 21, 2008·Orphanet Journal of Rare Diseases·Claudia E Dumitrescu, Michael T Collins
Jun 27, 2008·Orphanet Journal of Rare Diseases·Philippe Chanson, Sylvie Salenave
Jul 18, 2002·Annals of the New York Academy of Sciences·Lee S WeinsteinJie Liu
Jan 20, 2006·The British Journal of Radiology·B GuglaniB A Loway
Jun 15, 2019·Oxford Medical Case Reports·Eleftherios NeromyliotisMarios S Themistocleous
Jan 1, 1996·Pediatric Radiology·F Lair-MilanC Adamsbaum
Sep 26, 2020·Clinics in Dermatology·Shayan CheraghlouKeith A Choate
Aug 5, 2000·Baillière's Best Practice & Research. Clinical Rheumatology·R D Chapurlat, P J Meunier

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