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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Shaheen, Ranad; Alsahli, Saud; Ewida, Nour; Alzahrani, Fatema; Shamseldin, Hanan E; Patel, Nisha; Al Qahtani, Awad; Alhebbi, Homoud; Alhashem, Amal; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Abouelhoda, Mohamed; Monies, Dorota; Al-Hussaini, Abdulrahman; Alzouman, Muneerah A; Shagrani, Mohammad; Faqeih, Eissa; Alkuraya, Fowzan S.
Afiliación
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alzahrani F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Patel N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al Qahtani A; Department of Pediatric Gastroenterology & Hepatologist, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alhebbi H; Department of Pediatric Gastroenterology & Hepatologist, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
  • Alhashem A; Department of Pediatric, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
  • Al-Sheddi T; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Alomar R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alobeid E; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Abouelhoda M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Al-Hussaini A; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Alzouman MA; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Shagrani M; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
  • Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Alkuraya FS; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Hepatology ; 71(6): 2067-2079, 2020 06.
Article en En | MEDLINE | ID: mdl-31595528
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colestasis Intrahepática / Péptidos y Proteínas de Señalización Intracelular / Repeticiones de Tetratricopéptidos / Enfermedades del Recién Nacido Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans / Newborn Idioma: En Revista: Hepatology Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita
Texto completo
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XML
PubMed Links
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colestasis Intrahepática / Péptidos y Proteínas de Señalización Intracelular / Repeticiones de Tetratricopéptidos / Enfermedades del Recién Nacido Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Animals / Humans / Newborn Idioma: En Revista: Hepatology Año: 2020 Tipo del documento: Article País de afiliación: Arabia Saudita