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Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

Institute of Neuroanatomy and Cell Biology, Charité – Universitätsmedizin Berlin, Berlin, Germany Berlin Institute of Health (BIH), Berlin, Germany Department of Pediatric Neurology, Charité – Universitätsmedizin Berlin, Berlin, Germany Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité – Universitätsmedizin Berlin, Berlin, Germany Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur, Pakistan Poonch Medical College, Rawalakot, Azad Kashmir, Pakistan Institute of Neuroradiology, Charité – Universitätsmedizin Berlin, Berlin, Germany Department of Biotechnology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan Guangzhou Women and Children’s Medical Center, Guangzhou, China Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan Correspondence Angela M. Kaindl, Center for Chronically Sick Children (SPZ; Sozialpädiatrisches Zentrum), Department of Pediatric Neurology, Institute of Cell Biology and Neurobiology, Charité – Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany. Email: angela.kaindl@charite.de Funding information German Research Foundation, Grant/Award Number: SFB665; Higher Education Commission Pakistan, Grant/Award Number: HEC