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A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy.
Alhamoudi, Kheloud M; Barhoumi, Tlili; Al-Eidi, Hamad; Asiri, Abdulaziz; Nashabat, Marwan; Alaamery, Manal; Alharbi, Masheal; Alhaidan, Yazeid; Tabarki, Brahim; Umair, Muhammad; Alfadhel, Majid.
Afiliación
  • Alhamoudi KM; Medical Genomics Research Department, 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, Kingdom of 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, Kingdom of Saudi Arabia.
  • Al-Eidi H; Medical Genomics Research Department, 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, Kingdom of Saudi Arabia.
  • Asiri A; Faculty of Applied Medical Sciences, University of Bisha, Al Nakhil, 225, Bisha, 67714, Kingdom of Saudi Arabia.
  • Nashabat M; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia.
  • Alaamery M; Developmental Medicine 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, Riyadh, Kingdom of Saudi Arabia.
  • Alharbi M; Medical Genomics Research Department, 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, Kingdom of Saudi Arabia.
  • Alhaidan Y; Medical Genomics Research Department, 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, Kingdom of Saudi Arabia.
  • Tabarki B; Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia.
  • Umair M; Medical Genomics Research Department, 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, Kingdom of Saudi Arabia.
  • Alfadhel M; Medical Genomics Research Department, 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, Kingdom of Saudi Arabia. dralfadhelm@gmail.com.
Sci Rep ; 11(1): 12861, 2021 06 18.
Article en En | MEDLINE | ID: mdl-34145321
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cardiomiopatía Restrictiva / Discapacidades del Desarrollo / Codón sin Sentido / Predisposición Genética a la Enfermedad / Homocigoto / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cardiomiopatía Restrictiva / Discapacidades del Desarrollo / Codón sin Sentido / Predisposición Genética a la Enfermedad / Homocigoto / Proteínas de la Membrana Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Sci Rep Año: 2021 Tipo del documento: Article