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

著录项

• 来源
  《American journal of medical genetics, Part A》 |2018年第11期|共5页
• 作者

  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;

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• 作者单位

  Charite Univ Med Berlin Inst Neuroanat &

  Cell Biol Berlin Germany;

  MUST Dept Zool Mirpur Pakistan;

  Poonch Med Coll Rawalakot Azad Kashmir Pakistan;

  Charite Univ Med Berlin Inst Neuroradiol Berlin Germany;

  Charite Univ Med Berlin Inst Neuroanat &

  Cell Biol Berlin Germany;

  Univ Azad Jammu &

  Kashmir Dept Biotechnol Muzaffarabad Pakistan;

  MUST Dept Zool Mirpur Pakistan;

  Guangzhou Women &

  Childrens Med Ctr Guangzhou Guangdong Peoples R China;

  Univ Azad Jammu &

  Kashmir Dept Zool Muzaffarabad Pakistan;

  Univ Azad Jammu &

  Kashmir Dept Zool Muzaffarabad Pakistan;

  Charite Univ Med Berlin Inst Neuroanat &

  Cell Biol Berlin Germany;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词

  cystic leukomalacia; intellectual disability; isolated inferior vermian hypoplasia; tRNA methyltransferases; microcephaly;

  机译：囊性白血病;智力残疾;孤立的vermian发育不全;trna甲基转移酶;微症;
• 入库时间 2022-08-20 02:16:07