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 PodriniNeil 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

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Medicine & Life Sciences