De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
PPP3CA基因的新生突变导致严重的神经发育障碍并伴有癫痫发作
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.08.013.
Candace T Myers ,Nicholas Stong ,Emily I Mountier ,Katherine L Helbig ,Saskia Freytag ,Joseph E Sullivan ,Bruria Ben Zeev ,Andreea Nissenkorn ,Michal Tzadok ,Gali Heimer ,Deepali N Shinde ,Arezoo Rezazadeh ,Brigid M Regan ,Karen L Oliver ,Michelle E Ernst ,Natalie C Lippa ,Maureen S Mulhern ,Zhong Ren ,Annapurna Poduri ,Danielle M Andrade ,Lynne M Bird ,Melanie Bahlo ,Samuel F Berkovic ,Daniel H Lowenstein ,Ingrid E Scheffer ,Lynette G Sadleir ,David B Goldstein ,Heather C Mefford ,Erin L Heinzen