Your browser doesn't support javascript.
loading
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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-33495992

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Protein Disulfide-Isomerases / Unfolded Protein Response / Loss of Function Mutation / Infant, Premature, Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ellis-Van Creveld Syndrome / Protein Disulfide-Isomerases / Unfolded Protein Response / Loss of Function Mutation / Infant, Premature, Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans / Male Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Country of publication: