Publication
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Lina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall-Chaure, Naseebullah Kakar, Pola Smirin-Yosef, Marta Vila-Pueyo, Liora Kornreich, Holger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik-Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck
The American Journal of Human Genetics, September 2013, Elsevier
DOI: 10.1016/j.ajhg.2013.07.005