Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Lina Basel-Vanagaite; Bruno Dallapiccola; Ramiro Ramirez-Solis; Alexandra Segref; Holger Thiele; Andrew Edwards; Mark J. Arends; Xavier Miró; Jacqueline K. White; Julie Désir; Marc Abramowicz; Maria Lisa Dentici; Francesca Lepri; Kay Hofmann; Adi Har-Zahav; Edward Ryder; Natasha A. Karp; Jeanne Estabel; Anna-Karin B. Gerdin; Christine Podrini; Neil J. Ingham; Janine Altmüller; Gudrun Nürnberg; Peter Frommolt; Sonia Abdelhak; Metsada Pasmanik-Chor; Osnat Konen; Richard I. Kelley; Mordechai Shohat; Peter Nürnberg; Jonathan Flint; Karen P. Steel; Thorsten Hoppe; Christian Kubisch; David J. Adams; Guntram Borck
- 作者Lina Basel-Vanagaite; Bruno Dallapiccola; Ramiro Ramirez-Solis; Alexandra Segref; Holger Thiele; Andrew Edwards; Mark J. Arends; Xavier Miró; Jacqueline K. White; Julie Désir; Marc Abramowicz; Maria Lisa Dentici; Francesca Lepri; Kay Hofmann; Adi Har-Zahav; Edward Ryder; Natasha A. Karp; Jeanne Estabel; Anna-Karin B. Gerdin; Christine Podrini; Neil J. Ingham; Janine Altmüller; Gudrun Nürnberg; Peter Frommolt; Sonia Abdelhak; Metsada Pasmanik-Chor; Osnat Konen; Richard I. Kelley; Mordechai Shohat; Peter Nürnberg; Jonathan Flint; Karen P. Steel; Thorsten Hoppe; Christian Kubisch; David J. Adams; Guntram Borck
- 卷第91卷
- 期第6期
- 文件大小1078.53KB
- 发表时间2012
- DOI10.1016/j.ajhg.2012.10.011