Case report: compound heterozygous nup85 variants cause autosomal recessive primary microcephaly

HIGHLIGHTS

• who: Ethiraj Ravindran from the Sichuan University, China have published the paper: Case report: Compound heterozygous NUP85 variants cause autosomal recessive primary microcephaly, in the Journal: (JOURNAL)
• what: The authors report compound heterozygous NUP85 variants in a child with MCPH, but without the short stature seen in Seckel syndrome. The authors report an individual with NUP85 variants with MCPH phenotype, thereby expanding the clinical phenotype spectrum of NUP85-associated diseases and highlighting the role of NUP85 in brain development.
• how: Cell viability (fluorimetric CellTiterBlue Cell Viability Assay R Promega Madison the USA) was . . .
  

   

  

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