De novo variants in mast4 related to neurodevelopmental disorders with developmental delay and infantile spasms: genotype-phenotype association

HIGHLIGHTS

• who: Xi Zhang from the University of Bergen, Norway Mu00e9diterranu00e9e, France have published the paper: De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association, in the Journal: (JOURNAL)
• what: The authors described three de novo heterozygous missense MAST4 variants in four unrelated patients with IS and Frontiers in Molecular Neuroscience frontiersin.org 10.3389/fnmol.2023.1097553 associated with developmental disorders (Kaplanis et_al, 2020).
• how: The kinship of four trios` samples have been checked and the data is shown in Supplementary Table 1 and . . .
  

   

  

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