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

Cite this

@article{e88f74baa7a8457584aa89e680678257,
title = "Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome",
keywords = "congenital nephrotic syndrome, perinatal death, Wilms tumor 1 suppressor gene, long-term tissue storage, denys Drash syndrome",
author = "Hillen, {Lisa Maria} and Kamsteeg, {Erik Jan} and Jeroen Schoots and Tiebosch, {Anton Tom} and Speel, {Ernst Jan} and Roemen, {Guido M.} and {Peutz - Kootstra}, Carine and Stumpel, {Constance T. R. M.}",
year = "2016",
month = "3",
day = "3",
doi = "10.3109/15513815.2016.1139018",
language = "English",
volume = "35",
pages = "112--119",
journal = "Fetal and Pediatric Pathology",
issn = "1551-3815",
publisher = "Informa Healthcare",
number = "2",

}

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome. / Hillen, Lisa Maria; Kamsteeg, Erik Jan; Schoots, Jeroen; Tiebosch, Anton Tom; Speel, Ernst Jan; Roemen, Guido M.; Peutz - Kootstra, Carine; Stumpel, Constance T. R. M.

In: Fetal and Pediatric Pathology, Vol. 35, No. 2, 03.03.2016, p. 112-119.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

AU - Hillen, Lisa Maria

AU - Kamsteeg, Erik Jan

AU - Schoots, Jeroen

AU - Tiebosch, Anton Tom

AU - Speel, Ernst Jan

AU - Roemen, Guido M.

AU - Peutz - Kootstra, Carine

AU - Stumpel, Constance T. R. M.

PY - 2016/3/3

Y1 - 2016/3/3

KW - congenital nephrotic syndrome

KW - perinatal death

KW - Wilms tumor 1 suppressor gene

KW - long-term tissue storage

KW - denys Drash syndrome

U2 - 10.3109/15513815.2016.1139018

DO - 10.3109/15513815.2016.1139018

M3 - Article

VL - 35

SP - 112

EP - 119

JO - Fetal and Pediatric Pathology

JF - Fetal and Pediatric Pathology

SN - 1551-3815

IS - 2

ER -