Article
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
The New England journal of medicine - 18 Dec 2014
Trivellin Giampaolo, Daly Adrian F, Faucz Fabio R, Yuan Bo, Rostomyan Liliya, Larco Darwin O, Schernthaner-Reiter Marie Helene, Szarek Eva, Leal Letícia F, Caberg Jean-Hubert, Castermans Emilie, Villa Chiara, Dimopoulos Aggeliki, Chittiboina Prashant, Xekouki Paraskevi, Shah Nalini, Metzger Daniel, Lysy Philippe A, Ferrante Emanuele, Strebkova Natalia, Mazerkina Nadia, Zatelli Maria Chiara, Lodish Maya, Horvath Anelia, de Alexandre Rodrigo Bertollo, Manning Allison D, Levy Isaac, Keil Margaret F, Sierra Maria de la Luz, Palmeira Leonor, Coppieters Wouter, Georges Michel, Naves Luciana A, Jamar Mauricette, Bours Vincent, Wu T John, Choong Catherine S, Bertherat Jerome, Chanson Philippe, Kamenický Peter, Farrell William E, Barlier Anne, Quezado Martha, Bjelobaba Ivana, Stojilkovic Stanko S, Wess Jurgen, Costanzi Stefano, Liu Pengfei, Lupski James R, Beckers Albert, Stratakis Constantine A
Abstract excerpt
BACKGROUND: Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults; the genetic causes of gigantism and acromegaly are poorly understood. METHODS: We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequence...
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