• Media type: E-Article
  • Title: Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
  • Contributor: Xu, Mingchu; Xie, Yajing (Angela); Abouzeid, Hana; Gordon, Christopher T.; Fiorentino, Alessia; Sun, Zixi; Lehman, Anna; Osman, Ihab S.; Dharmat, Rachayata; Riveiro-Alvarez, Rosa; Bapst-Wicht, Linda; Babino, Darwin; Arno, Gavin; Busetto, Virginia; Zhao, Li; Li, Hui; Lopez-Martinez, Miguel A.; Azevedo, Liliana F.; Hubert, Laurence; Pontikos, Nikolas; Eblimit, Aiden; Lorda-Sanchez, Isabel; Kheir, Valeria; Plagnol, Vincent; [...]
  • imprint: Elsevier BV, 2017
  • Published in: The American Journal of Human Genetics
  • Language: English
  • DOI: 10.1016/j.ajhg.2017.02.008
  • ISSN: 0002-9297
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Access State: Open Access