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Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pantel, Dalia; Mertens, Nils D; Schneider, Ronen; Hölzel, Selina; Kari, Jameela A; Desoky, Sherif El; Shalaby, Mohamed A; Lim, Tze Y; Sanna-Cherchi, Simone; Shril, Shirlee; Hildebrandt, Friedhelm.
Afiliación
  • Pantel D; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Mertens ND; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Schneider R; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Hölzel S; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Kari JA; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA, 02115, USA.
  • Desoky SE; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Shalaby MA; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
  • Lim TY; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Sanna-Cherchi S; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
  • Shril S; Department of Pediatrics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Hildebrandt F; Pediatric Nephrology Center of Excellence, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
Pediatr Nephrol ; 39(2): 455-461, 2024 Feb.
Article en En | MEDLINE | ID: mdl-37670083
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome Nefrótico Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome Nefrótico Tipo de estudio: Prognostic_studies Límite: Adult / Child / Humans Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2024 Tipo del documento: Article País de afiliación: Estados Unidos