Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum

著录项

• 来源
  《American journal of medical genetics, Part A》 |2020年第12期|共10页
• 作者

  Zaki Maha S.; Otaify Ghada A.; Ismail Samira; Issa Mahmoud Y.; El-Ruby Mona O.; Sadek Abdelrahim A.; Ashaat Engy A.; El Saeidi Sonia A.; Aglan Mona S.; Temtamy Samia; Abdel-Hamid Mohamed S.;

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• 作者单位

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Sohag Univ Fac Med Dept Pediat Neurol Sohag Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Cairo Univ Fac Med Dept Pediat Cardiol Cairo Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Dept Clin Genet Human Genet &

  Genome Res Div Eltahrir St Cairo 12311 Egypt;

  Natl Res Ctr Human Genet &

  Genome Res Div Med Mol Genet Dept Cairo Egypt;

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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

  blepharophimosis-intellectual disability syndromes; blepharophimosis-ptosis-intellectual disability syndrome; Egyptian patients; novel variants; UBE3Bgene;

  机译：脑梗死 - 智力残疾综合征;睑缘菌症 - 头孢肌 - 智力综合征;埃及患者;新型变种;Ube3bgene;