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Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum.
Asiri, Abdulaziz; Alwadaani, Deemah; Umair, Muhammad; Alhamoudi, Kheloud M; Almuhanna, Mohammed H; Nasir, Abdul; Alrfaei, Bahauddeen M; Al Tuwaijri, Abeer; Barhoumi, Tlili; Alyafee, Yusra; Almuzzaini, Bader; Aldrees, Mohammed; Ballow, Mariam; Alayyar, Latifah; Al Abdulrahman, Abdulkareem; Alhaidan, Yazeid; Al Ghasham, Nahlah; Al-Ajaji, Sulaiman; Alsalamah, Mohammad; Al Suwairi, Wafa; Alfadhel, Majid.
Afiliación
  • Asiri A; Faculty of Applied Medical Sciences, University of Bisha, 255, Al Nakhil, Bisha 67714, Saudi Arabia.
  • Alwadaani D; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Alhamoudi KM; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Almuhanna MH; Cellular Therapy and Cancer Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Nasir A; Department of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea.
  • Alrfaei BM; Stem Cells Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Al Tuwaijri A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Barhoumi T; Medical Core Facility and Research Platforms, King Abdullah International Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.
  • Alyafee Y; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Almuzzaini B; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Aldrees M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Ballow M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Alayyar L; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Al Abdulrahman A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Alhaidan Y; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Al Ghasham N; Hematology Division, Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh 11426, Saudi Arabia.
  • Al-Ajaji S; Allergy and Immunology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Alsalamah M; Allergy and Immunology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Al Suwairi W; Rheumatology Division, Department of Pediatrics, King Abdullah Specialist Children's Hospital, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
  • Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh 11426, Saudi Arabia.
Genes (Basel) ; 12(2)2021 02 20.
Article en En | MEDLINE | ID: mdl-33672558
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancitopenia / Cicatrización de Heridas / Encéfalo / Predisposición Genética a la Enfermedad / Proteína de Unión al GTP cdc42 / Estudios de Asociación Genética / Reinfección Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Pancitopenia / Cicatrización de Heridas / Encéfalo / Predisposición Genética a la Enfermedad / Proteína de Unión al GTP cdc42 / Estudios de Asociación Genética / Reinfección Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Suiza