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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.

作者信息

Blaesius Kathrin, Abbasi Ansar A, Tahir Tufail H, Tietze Anna, Picker-Minh Sylvie, Ali Ghazanfar, Farooq Sundas, Hu Hao, Latif Zahid, Khan Muhammad N, Kaindl Angela

机构信息

Institute of Neuroanatomy and Cell Biology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Berlin Institute of Health (BIH), Berlin, Germany.

出版信息

Am J Med Genet A. 2018 Nov;176(11):2517-2521. doi: 10.1002/ajmg.a.38631. Epub 2018 Oct 5.

DOI:10.1002/ajmg.a.38631
PMID:30289604
Abstract
摘要

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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.转运RNA甲基转移酶1基因（TRMT1）的突变除了导致智力残疾外，还会引起先天性小头畸形、单纯性小脑蚓部发育不全和囊性脑白质软化。
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