Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability: Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in ad
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2018）
关键词
cystic leukomalacia,intellectual disability,isolated inferior vermian hypoplasia,tRNA methyltransferases,microcephaly
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