DE NOVO VARIANTS IN KMT2E, A CANDIDATE HAPLOINSUFFICIENT GENE, ARE A NOVEL CAUSE OF INTELLECTUAL DISABILITY

著录项

• 来源
  《American journal of medical genetics, Part A》 |2018年第6期|共1页
• 作者

  ODonnell-Luria Anne; Samocha Kaitlin; Yogev Yuval; Kanengisser-Pines Bibi; Birk Ohad; Basinger Alice; Bird Lynne; Trauner Doris; Ceulemans Sophia; Bianchini Claudia; Abou Jamra Rami; Escobar Luis F.; Kroes Hester Y.; van der Crabben Saskia; Marcelis Carlo; Daly Mark; MacArthur Daniel; Tan Wen-Hann; Rodan Lance;

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• 作者单位

  Boston Childrens Hosp Boston MA USA;

  Broad Inst MIT &

  Harvard Cambridge MA USA;

  Ben Gurion Univ Negev Beer Sheva Israel;

  Ben Gurion Univ Negev Beer Sheva Israel;

  Ben Gurion Univ Negev Beer Sheva Israel;

  Cook Childrens Phys Network Ft Worth TX USA;

  Rady Childrens Hosp San Diego CA USA;

  Rady Childrens Hosp San Diego CA USA;

  Rady Childrens Hosp San Diego CA USA;

  Univ Florence A Meyer Childrens Hosp Neurogenet &

  Neurobiol Unit &

  Labs Florence Italy;

  Univ Leipzig Inst Human Genet Leipzig Germany;

  St Vincent Hosp Med Genet &

  Neurodev Ctr Indianapolis IN USA;

  Univ Med Ctr Utrecht Utrecht Netherlands;

  Univ Med Ctr Utrecht Utrecht Netherlands;

  Radboud Univ Nijmegen Med Ctr Nijmegen Netherlands;

  Broad Inst MIT &

  Harvard Cambridge MA USA;

  Broad Inst MIT &

  Harvard Cambridge MA USA;

  Boston Childrens Hosp Boston MA USA;

  Boston Childrens Hosp Boston MA USA;

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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