Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

TitleGermline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.
Publication TypeJournal Article
AuthorsLodish, MB, Yuan, B, Levy, I, Braunstein, GD, Lyssikatos, C, Salpea, P, Szarek, E, Karageorgiadis, AS, Belyavskaya, E, Raygada, M, Faucz, FRueda, Izatt, L, Brain, C, Gardner, J, Quezado, M, J Carney, A, Lupski, JR, Stratakis, CA
PubMed ID25924874
PubMed Central IDPMC4428149
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
R01NS058529 / NS / NINDS NIH HHS / United States
U54HG006542 / HG / NHGRI NIH HHS / United States
Z01 HD000642-10 / / Intramural NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States