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Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia.
Lemire, Gabrielle; Zheng, Bixia; Ediae, Grace U; Zou, Ruobing; Bhola, Priya T; Chisholm, Caitlin; de Nanassy, Joseph; Lo, Bryan; Wang, Chunyan; Shril, Shirlee; El Desoky, Sherif; Shalaby, Mohammed; Kari, Jameela A; Wang, Xueqi; Kernohan, Kristin D; Boycott, Kym M; Hildebrandt, Friedhelm; Sawyer, Sarah L.
  • Lemire G; Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Canada.
  • Zheng B; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.
  • Ediae GU; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Zou R; Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Canada.
  • Bhola PT; Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Canada.
  • Chisholm C; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.
  • de Nanassy J; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.
  • Lo B; Department of Pathology, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.
  • Wang C; Department of Pathology, The Ottawa Hospital, Ottawa, Canada.
  • Shril S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • El Desoky S; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shalaby M; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Wang X; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Boycott KM; Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Canada.
  • Hildebrandt F; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.
  • Sawyer SL; Children's Hospital of Eastern Ontario (CHEO) Research Institute, University of Ottawa, Ottawa, Canada.
Am J Med Genet A ; 185(10): 3005-3011, 2021 10.
Article en En | MEDLINE | ID: mdl-34145744

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Anomalías Urogenitales / Proteínas Wnt / Riñón / Enfermedades Renales Tipo de estudio: Diagnostic_studies Límite: Animals / Child / Female / Humans / Infant / Male / Pregnancy Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Anomalías Urogenitales / Proteínas Wnt / Riñón / Enfermedades Renales Tipo de estudio: Diagnostic_studies Límite: Animals / Child / Female / Humans / Infant / Male / Pregnancy Idioma: En Año: 2021 Tipo del documento: Article