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.