作者: Sylvia Huisman , Paul A. Mulder , Egbert Redeker , Ingrid Bader , Anne-Marie Bisgaard
DOI: 10.1002/AJMG.A.38279
关键词:
摘要: … allowed recognizing SMC1A variants in individuals with encephalopathy with epilepsy who … We performed an international, interdisciplinary study on 51 individuals with SMC1A variants …