Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

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 sequenced a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:N Engl J Med
Prif Awduron: Trivellin, G., Daly, A.F., Faucz, F.R., Yuan, B., Rostomyan, L., Larco, D.O., Schernthaner-Reiter, M.H., Szarek, E., Leal, L.F., Caberg, J.-H., Castermans, E., Villa, C., Dimopoulos, A., Chittiboina, P., Xekouki, P., Shah, N., Metzger, D., Lysy, P.A., Ferrante, E., Strebkova, N., Mazerkina, N., Zatelli, M.C., Lodish, M., Horvath, A., de Alexandre, R. Bertollo, Manning, A.D., Levy, I., Keil, M.F., de la Luz Sierra, M., Palmeira, L., Coppieters, W., Georges, M., Naves, L.A., Jamar, M., Bours, V., Wu, T.J., Choong, C.S., Bertherat, J., Chanson, P., Kamenický, P., Farrell, W.E., Barlier, A., Quezado, M., Bjelobaba, I., Stojilkovic, S.S., Wess, J., Costanzi, S., Liu, P., Lupski, J.R., Beckers, A., Stratakis, C.A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291174/
https://ncbi.nlm.nih.gov/pubmed/25470569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1408028
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