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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Wu, Chen-Han Wilfred; Mann, Nina; Nakayama, Makiko; Connaughton, Dervla M; Dai, Rufeng; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Wang, Chunyan; Klämbt, Verena; Seltzsam, Steve; Lai, Ethan W; Selvin, Aravind; Senguttuva, Prabha; Bodamer, Olaf; Stein, Deborah R; El Desoky, Sherif; Kari, Jameela A; Tasic, Velibor; Bauer, Stuart B; Shril, Shirlee; Hildebrandt, Friedhelm.
Afiliação
  • Wu CW; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Mann N; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Nakayama M; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Connaughton DM; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Dai R; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Kause F; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Ottlewski I; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Wang C; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Klämbt V; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Seltzsam S; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Lai EW; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Selvin A; Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, The Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu, India.
  • Senguttuva P; Department of Pediatric Nephrology, Dr. Mehta's Multi-Specialty Hospital, Chennai, Tamil Nadu, India.
  • Bodamer O; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Stein DR; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • El Desoky S; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Kari JA; Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
  • Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje, Macedonia.
  • Bauer SB; Department of Urology, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Shril S; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA.
  • Hildebrandt F; Department of Pediatrics, Boston Children's Hospital/Harvard Medical School, Boston, MA, USA. friedhelm.hildebrandt@childrens.harvard.edu.
Genet Med ; 22(10): 1673-1681, 2020 10.
Article em En | MEDLINE | ID: mdl-32475988
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades do Olho Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sistema Urinário / Anormalidades do Olho Tipo de estudo: Prognostic_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos