Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intellectual disability.
Ethiraj RavindranCynthia Gutierrez de VelazcoAli GhazanfarNadine KraemerSami ZaqoutAbdul WaheedMohsan HanifSadia MughalAlessandro PrigioneNa LiXiang FangHao HuAngela M KaindlPublished in: Journal of medical genetics (2021)
We report mutations of MCM7 as a novel cause of autosomal recessive MCPH and intellectual disability and highlight the crucial function of MCM7 in nervous system development.