CRANIOFACIAL ANOMALIES, PTOSIS, AGENESIS OF THE CORPUS CALLOSUM, AND DEVELOPMENTAL DELAY ASSOCIATED WITH LOSS OF FUNCTION VARIANTS IN ZNF462: HUMANS AND ZEBRAFISH

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• 来源
  《American journal of medical genetics, Part A》 |2019年第4期|共2页
• 作者

  Kruszka P.; Hu T.; Martinez-Agosto J. A.; Signer R.; Jurgens J.; Engle E. C.; Hartley T.; Boycott K. M.; Fannemel M.; Beck N.; Ghali N.; Anderlid B. M.; Lundin J.; Ghedia S.; Bartley C. M.; Spillmann R. C.; Wigby K.; Giltay J. C.; van Gassen K. L. I.; Brigatti K. W.; Mazzola S.; Zackai E. H.; Hong S. K.; Hamosh A.; Jones M. C.; Weiss K.; Muenke M.;

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• 作者单位

  NHGRI NIH Bethesda MD 20892 USA;

  NHGRI NIH Bethesda MD 20892 USA;

  Univ Calif Los Angeles David Geffen Sch Med Los Angeles CA 90095 USA;

  Univ Calif Los Angeles David Geffen Sch Med Los Angeles CA 90095 USA;

  Harvard Univ Boston Childrens Hosp Boston MA 02115 USA;

  Harvard Univ Boston Childrens Hosp Boston MA 02115 USA;

  Univ Ottawa Childrens Hosp Eastern Ontario Res Inst Ottawa ON Canada;

  Univ Ottawa Childrens Hosp Eastern Ontario Res Inst Ottawa ON Canada;

  Oslo Univ Hosp Rikshosp Oslo Norway;

  Johns Hopkins Univ Sch Med McKusick Nathans Inst Genet Med Baltimore MD USA;

  London North West Healthcare NHS Trust Northwick Pk Hosp North West Thames Reg Genet Serv Harrow;

  Karolinska Inst Ctr Mol Med Stockholm Sweden;

  Karolinska Inst Ctr Mol Med Stockholm Sweden;

  Royal North Shore Hosp Pacific Highway St Leonards NSW Australia;

  Univ Calif San Francisco San Francisco CA 94143 USA;

  Duke Univ Sch Med Durham NC USA;

  Univ Calif San Diego San Diego CA 92103 USA;

  Univ Med Ctr Utrecht Utrecht Netherlands;

  Univ Med Ctr Utrecht Utrecht Netherlands;

  Clin Special Children Strasburg PA USA;

  Univ Penn Childrens Hosp Philadelphia Philadelphia PA 19104 USA;

  Univ Penn Childrens Hosp Philadelphia Philadelphia PA 19104 USA;

  NHGRI NIH Bethesda MD 20892 USA;

  Johns Hopkins Univ Sch Med McKusick Nathans Inst Genet Med Baltimore MD USA;

  Univ Calif San Diego San Diego CA 92103 USA;

  NHGRI NIH Bethesda MD 20892 USA;

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