Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features

著录项

• 来源
  《Journal of Clinical Immunology》 |2018年第8期|共7页
• 作者

  Alghamdi Hamza A.; Tashkandi Suha A.; Alidrissi Eman M.; Aledielah Rawan D.; AlSaidi Khelad A.; Alharbi Enas S.; Habazi Murad K.; Alzahrani Mofareh S.;

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• 作者单位

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

  King Fahad Med City Cytogenet Lab Makkah Almukaramah Rd Sulimaniyah 6481 Riyadh 12231 Saudi;

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

  King Fahad Med City Cytogenet Lab Makkah Almukaramah Rd Sulimaniyah 6481 Riyadh 12231 Saudi;

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

  King Fahad Med City Childrens Specialized Hosp Allergy &

  Immunol Sect Makkah Almukaramah Rd;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学免疫学;
• 关键词

  ICF; Whole-exome sequencing; Immunodeficiency; Antibody deficiency; Centromeric instability; Facial anomalies; Cytogenetic; DNMT3B; ZBTB24; HELLS;

  机译：ICF;全exome测序;免疫缺陷;抗体缺乏;焦化不稳定性;面部异常;细胞遗传学;DNMT3B;ZBTB24;地狱;