Novel compound heterozygous mutation in stambp causes a neurodevelopmental disorder by disrupting cortical proliferation

HIGHLIGHTS

  • who: Huiping Li and Weijun Feng and Xiu Xu from the Peking University, China have published the paper: Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation, in the Journal: (JOURNAL)
  • what: Early postnatal mice display neurodegenerative apoptotic activation and ubiquitinconjugated_protein aggregation in the hippocampus and Frontiers in Neuroscience Patient and methods Ethics statement Ethical approval for this study was obtained from the Ethics Committee of Children's Hospital affiliated with Fudan University (permit no. 2016-131). The authors propose that capillary malformation is not a definite requirement for STAMBP . . .

     

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