EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
脑桥小脑发育不全1型中的EXOSC3突变:新的突变和基因型-表型相关性
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-9-23
Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; Darin, Niklas; Dixit, Abhijit; Fluss, Joel; Foulds, Nicola; Fowler, Darren; Hortobágyi, Tibor; Jacques, Thomas; King, Mary D; Makrythanasis, Periklis; Máté, Adrienn; Nicoll, James A R; O'Rourke, Declan; Price, Sue; Williams, Andrew N; Wilson, Louise; Suri, Mohnish; Sztriha, Laszlo; Dijns-de Wissel, Marit B; van Meegen, Mia T; van Ruissen, Fred; Aronica, Eleonora; Troost, Dirk; Majoie, Charles Blm; Marquering, Henk A; Poll-Thé, Bwee Tien; Baas, Frank