Article
GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty.
Pediatric endocrinology reviews : PER - 1 Aug 2007
Wagoner Heather A, Steinmetz Rosemary, Bethin Kathleen E, Eugster Erica A, Pescovitz Ora H, Hannon Tamara S
Abstract excerpt
BACKGROUND: McCune-Albright syndrome (MAS) is characterized by a triad of gonadotropin-independent precocious puberty, café au lait skin pigmentation and fibrous dysplasia of bone. MAS is due to activating mutations of GNAS, the gene encoding Gsalpha. Interest exists in the use of GNAS mutation analysis to make a definitive diagnosis when the phenotype is not diagnostic, i.e. in partial forms of MAS. The utility...
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