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Which of the following is associated with a mutation in the GNAS gene?
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A 6-year-old being evaluated in your clinic presents with the clinical findings and radiographs shown in Figures A and B. What is the most likely diagnosis?
A mutation in a G(s) alpha protein (activating G protein that increases cAMP) results in which of the following diseases?
All of the following are characteristic of McCune-Albright syndrome EXCEPT?
Caused by a mutation in G(s)alpha subunit
Polyostotic fibrous dysplasia
A 17-year-old high-school track athlete complains of vague pain along his knee. He denies any specific trauma to this area. A radiograph is seen in Figure A. A biopsy specimen in low and high power is seen in Figure C and D, respectively. What is the most likely diagnosis?
The G-protein coupled family of receptors play a crucial role in transmembrane cytokine signaling. Point mutation in the Gs-alpha subunit of this receptor is responsible for a specific bone/soft tissue disease. Which of the following radiographs corresponds to this disease?
A genetic abnormality in the cyclic AMP signaling pathway is involved in which of the following conditions?
Multiple hereditary exostosis
Neurofibromatosis type I