An analysis of phenotype and genotype in a large cohort of chinese children with angelman syndrome

HIGHLIGHTS

• who: Xiaonan Du et al. from the Division of Neurology, National Children's Medical Center, Children's Hospital of Fudan University, No, Wanyuan Road, Shanghai, China have published the research: An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome, in the Journal: Genes 2022, 13, 1447. of 14/08/2022
• what: The study showed the genetic composition of Chinese children with 83.02% of maternal deletions and the mutation spectrum for UBE3A variants was expanded. For children diagnosed with AS, the main reasons for seeking medical advice were . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or E-mail:

  If you don't have an account, you can create one here.