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Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease.
Fila, Marc; Morinière, Vincent; Eckart, Philippe; Terzic, Joelle; Gubler, Marie-Claire; Antignac, Corinne; Heidet, Laurence.
Affiliation
  • Fila M; Néphrologie pédiatrique, Centre de Référence maladies rénales rares SORARE, CHU Arnaud de Villeneuve, Montpellier, France.
  • Morinière V; APHP, Génétique moléculaire, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants malades, Paris, France.
  • Eckart P; Néphrologie pédiatrique, Centre Hospitalier Universitaire de Caen Normandie, Caen, France.
  • Terzic J; Néphrologie pédiatrique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Gubler MC; Laboratoire des Maladies rénales héréditaires, Institut Imagine, Inserm U1163, Université de Paris, Paris, France.
  • Antignac C; APHP, Génétique moléculaire, Centre de Référence MARHEA, Hôpital Universitaire Necker-Enfants malades, Paris, France.
  • Heidet L; Laboratoire des Maladies rénales héréditaires, Institut Imagine, Inserm U1163, Université de Paris, Paris, France.
Pediatr Nephrol ; 35(6): 1125-1128, 2020 06.
Article in En | MEDLINE | ID: mdl-32198635

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Renin-Angiotensin System / Urogenital Abnormalities / Kidney Tubules, Proximal Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Pediatr Nephrol Journal subject: NEFROLOGIA / PEDIATRIA Year: 2020 Document type: Article Affiliation country: Country of publication:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Renin-Angiotensin System / Urogenital Abnormalities / Kidney Tubules, Proximal Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Pediatr Nephrol Journal subject: NEFROLOGIA / PEDIATRIA Year: 2020 Document type: Article Affiliation country: Country of publication: