Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study - PubMed (original) (raw)

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management.

Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, Trouillas J, Roncaroli F, Sampson J, Ellard S, Korbonits M. Rodd C, et al. J Clin Endocrinol Metab. 2016 May;101(5):1927-30. doi: 10.1210/jc.2015-4366. Epub 2016 Mar 16. J Clin Endocrinol Metab. 2016. PMID: 26982009 Free PMC article.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Trivellin G, et al. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3. N Engl J Med. 2014. PMID: 25470569 Free PMC article.