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-Koostra, Carine J; Stumpel, Constance T R M

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

Afiliação

Hillen LM; a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
Kamsteeg EJ; b Department of Clinical Genetics , University Medical Center , Nijmegen , The Netherlands.
Schoots J; b Department of Clinical Genetics , University Medical Center , Nijmegen , The Netherlands.
Tiebosch AT; c Department of Pathology , Martini Ziekenhuis Groningen , Groningen , The Netherlands.
Speel EJ; a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
Roemen GM; a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
Peutz-Koostra CJ; a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
Stumpel CT; d Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW) , Maastricht University Medical Center , Maastricht , The Netherlands.

Fetal Pediatr Pathol ; 35(2): 112-9, 2016.

Article em En | MEDLINE | ID: mdl-26882358

Assuntos

Síndrome de Denys-Drash/genética; Genes do Tumor de Wilms; Síndrome Nefrótica/diagnóstico; Síndrome Nefrótica/genética; Feminino; Humanos; Hibridização in Situ Fluorescente; Mutação de Sentido Incorreto; Inclusão em Parafina; Fixação de Tecidos; Proteínas WT1/genética

Palavras-chave

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

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Genes do Tumor de Wilms / Síndrome de Denys-Drash / Síndrome Nefrótica Tipo de estudo: Diagnostic_studies Limite: Female / Humans Idioma: En Revista: Fetal Pediatr Pathol Assunto da revista: PATOLOGIA / PEDIATRIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Holanda País de publicação: Reino Unido

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