Article
Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2000
Bianco P, Riminucci M, Majolagbe A, Kuznetsov S A, Collins M T, Mankani M H, Corsi A, Bone H G, Wientroub S, Spiegel A M, Fisher L W, Robey P G
Abstract excerpt
Activating missense mutations of the GNAS1 gene, encoding the alpha subunit of the stimulatory G protein (Gs), have been identified in patients with the McCune-Albright syndrome (MAS; characterized by polyostotic fibrous dysplasia, café au lait skin pigmentation, and endocrine disorders). Because fibrous dysplasia (FD) of bone also commonly occurs outside of the context of typical MAS, we asked whether the same...
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