Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

著录项

• 来源
  《American journal of medical genetics, Part A》 |2021年第7期|共9页
• 作者

  Efthymiou Stephanie; Herman Isabella; Rahman Fatima; Anwar Najwa; Maroofian Reza; Yip Janice; Mitani Tadahiro; Calame Daniel G.; Hunter Jill V.; Sutton V. Reid; Yilmaz Gulec Elif; Duan Ruizhi; Fatih Jawid M.; Marafi Dana; Pehlivan Davut; Jhangiani Shalini N.; Gibbs Richard A.; Posey Jennifer E.; Maqbool Shazia; Lupski James R.; Houlden Henry;

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• 作者单位

  UCL Queen Sq Inst Neurol Dept Neuromuscular Disorders London WC1N 3BG England;

  Baylor Coll Med Dept Pediat Sect Pediat Neurol &

  Dev Neurosci Houston TX 77030 USA;

  Inst Child Hlth &

  Children Hosp Dev &

  Behav Pediat Dept Lahore Pakistan;

  Inst Child Hlth &

  Children Hosp Dev &

  Behav Pediat Dept Lahore Pakistan;

  UCL Queen Sq Inst Neurol Dept Neuromuscular Disorders London WC1N 3BG England;

  UCL Queen Sq Inst Neurol Dept Neuromuscular Disorders London WC1N 3BG England;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Pediat Sect Pediat Neurol &

  Dev Neurosci Houston TX 77030 USA;

  Texas Childrens Hosp Edward B Singleton Dept Radiol Div Neuroradiol Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Univ Hlth Sci Istanbul Kanuni Sultan Suleyman Res &

  Training Ho Dept Med Genet Istanbul Turkey;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Pediat Sect Pediat Neurol &

  Dev Neurosci Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  Baylor Coll Med Dept Mol &

  Human Genet Houston TX 77030 USA;

  UCL Queen Sq Inst Neurol Dept Neuromuscular Disorders London WC1N 3BG England;

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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