• Media type: E-Article
  • Title: EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
  • Contributor: 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 AR; 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; [...]
  • Published: Springer Science and Business Media LLC, 2014
  • Published in: Orphanet Journal of Rare Diseases, 9 (2014) 1
  • Language: English
  • DOI: 10.1186/1750-1172-9-23
  • ISSN: 1750-1172
  • Origination:
  • Footnote:
  • Access State: Open Access