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Article

McCune-Albright syndrome: clinical picture and natural history in children and adolescents.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2006

Völkl Thomas M K, Dörr Helmuth G

Abstract excerpt

The classical triad of McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia (FD), skin hyperpigmentation (café-au-lait spots), and endocrine dysfunction, frequently seen in females as precocious puberty. Patients with MAS display mosaicism of activating somatic mutations of the alpha-subunit of Gs. Thus, the clinical presentation of each individual is dependent on the particular distribution...

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Identifiers

PMID: 16789617
DOI: 10.1515/jpem.2006.19.s2.551

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