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McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a rare genetic disease, with incidence estimated between 1/100,000 and 1/1,000,000 cases/year. The classic syndrome is clinically characterized by a triad of physical signs: café-au-lait pigmented skin lesions, polyostotic fibrous dysplasia, and pseudo-precocious puberty.

 

Citation: Mariani BMP, Trarbach EB, Toledo RA, Lerario AM, Latronico AC, et al. (2014) The Use of Real Time PCR Genotyping to Detect Activating GNAS Mutations in McCune-Albright Syndrome. Hereditary Genet 3:126.

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