Phenotypes and genotypes in individuals with SMC1A variants

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 …

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