Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

Lisa Maria Hillen, Erik Jan Kamsteeg, Jeroen Schoots, Anton Tom Tiebosch, Ernst Jan Speel, Guido M. Roemen, Carine Peutz - Kootstra, Constance T. R. M. Stumpel

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)112-119
JournalFetal and Pediatric Pathology
Volume35
Issue number2
DOIs
Publication statusPublished - 3 Mar 2016

Keywords

  • congenital nephrotic syndrome
  • perinatal death
  • Wilms tumor 1 suppressor gene
  • long-term tissue storage
  • denys Drash syndrome

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