The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story - PubMed (original) (raw)

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.

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.

Nisbet AF, Viswanathan A, George AM, Arias P, Klein SD, Nevado J, Parra A, Pascual P, Romeo DJ, Tenorio-Castaño J, Taylor JA, Zackai EH, Lapunzina P, Kalish JM. Nisbet AF, et al. Am J Med Genet A. 2024 Dec;194(12):e63840. doi: 10.1002/ajmg.a.63840. Epub 2024 Aug 19. Am J Med Genet A. 2024. PMID: 39158128 Review.