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Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal-onset diabetes.
Al-Fadhli, Fatima M; Afqi, Manal; Sairafi, Mona Hamza; Almuntashri, Makki; Alharby, Essa; Alharbi, Ghadeer; Abdud Samad, Firoz; Hashmi, Jamil Amjad; Zaytuni, Dimah; Bahashwan, Ahmed A; Choi, Jin Huk; Peake, Roy W A; Beutler, Bruce; Almontashiri, Naif A M.
Afiliação
  • Al-Fadhli FM; Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia.
  • Afqi M; Unit of Genetic Diseases, Department of Pediatrics, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia.
  • Sairafi MH; Department of Nephrology, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia.
  • Almuntashri M; Department of Radiology, King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
  • Alharby E; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Alharbi G; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Abdud Samad F; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Hashmi JA; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Zaytuni D; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
  • Bahashwan AA; Laboratory and Blood Bank Department, Maternity and Children's Hospital, Almadinah Almunwarah, Saudi Arabia.
  • Choi JH; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Beutler B; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Almontashiri NAM; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
Clin Genet ; 99(5): 694-703, 2021 05.
Article em En | MEDLINE | ID: mdl-33495992
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld / Isomerases de Dissulfetos de Proteínas / Resposta a Proteínas não Dobradas / Mutação com Perda de Função / Doenças do Prematuro Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Ellis-Van Creveld / Isomerases de Dissulfetos de Proteínas / Resposta a Proteínas não Dobradas / Mutação com Perda de Função / Doenças do Prematuro Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans / Male Idioma: En Revista: Clin Genet Ano de publicação: 2021 Tipo de documento: Article