Ontology highlight
ABSTRACT:
SUBMITTER: Robinson C
PROVIDER: S-EPMC6194803 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Robinson Cemre C Estrada Andrea A Zaheer Atif A Singh Vikesh K VK Wolfgang Christopher L CL Goggins Michael G MG Hruban Ralph H RH Wood Laura D LD Noë Michaël M Montgomery Elizabeth A EA Guthrie Lori C LC Lennon Anne Marie AM Boyce Alison M AM Collins Michael T MT
The Journal of clinical endocrinology and metabolism 20181101 11
<h4>Context</h4>McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. The clinical spectrum and prevalence of MAS-associated GI disease is not well establish ...[more]