2021
DOI: 10.1016/j.aace.2020.11.036
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Skeletal Complications With GNAS Mutation: An Unusual Case With Osteoma Cutis, Gout, and Synovial Chondromatosis in a Patient With Pseudopseudohypoparathyroidism

Abstract: This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, a… Show more

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“…GNAS encodes GSa protein, which activates downstream cyclic AMP (cAMP) production and promotes signaling ( Turan and Bastepe, 2015 ; Tafaj and Jüppner, 2017 ). GNAS variants predispose patients to an abnormal synovial environment and the deposition of uric acid crystals, promoting the formation of gout and related osteoarthritis ( Rhyu and Bhat, 2021 ).…”
Section: The Association Between Genetic Variants Involved In Other M...mentioning
confidence: 99%
“…GNAS encodes GSa protein, which activates downstream cyclic AMP (cAMP) production and promotes signaling ( Turan and Bastepe, 2015 ; Tafaj and Jüppner, 2017 ). GNAS variants predispose patients to an abnormal synovial environment and the deposition of uric acid crystals, promoting the formation of gout and related osteoarthritis ( Rhyu and Bhat, 2021 ).…”
Section: The Association Between Genetic Variants Involved In Other M...mentioning
confidence: 99%