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A novel WFS1 variant associated with isolated congenital cataracts.
Krutish, Angela; Elmore, James; Ilse, Werner; Johnston, Janine L; Hittel, Dustin; Kerr, Marina; Khan, Aneal; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A.
Afiliación
  • Krutish A; Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Elmore J; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Ilse W; Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Johnston JL; Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Hittel D; Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Kerr M; Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Khan A; Department of Ophthalmology, University of Manitoba, Winnipeg, Manitoba, R3T 2N2, Canada.
  • Rockman-Greenberg C; Discovery DNA, Inc., Calgary, Alberta, T2L 1Y8, Canada.
  • Mhanni AA; Discovery DNA, Inc., Calgary, Alberta, T2L 1Y8, Canada.
Article en En | MEDLINE | ID: mdl-36781206

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Síndrome de Wolfram Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2023 Tipo del documento: Article País de afiliación: Canadá

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Catarata / Síndrome de Wolfram Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Risk_factors_studies Límite: Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2023 Tipo del documento: Article País de afiliación: Canadá