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Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family

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09. Juli 2016

Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family's Cover Image

Balkan Journal of Medical Genetics

Band 18 (2015): Heft 2 (Dezember 2015)

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COVER HERUNTERLADEN

Artikel-Kategorie: Case Report

Online veröffentlicht: 09. Juli 2016

Seitenbereich: 65 - 70

DOI: https://doi.org/10.1515/bjmg-2015-0087

Schlüsselwörter
Central nervous system (CNS) hemangioblastoma, Germline mutation, Renal cell carcinoma, Retinal hemangioblastoma (RH), von Hippel-Lindau (VHL) disease

© 2016 Walter de Gruyter GmbH, Berlin/Boston

This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abdominal computerized tomography image of case 1. Renal cell carcinoma in the left kidney (preoperatively).

Optical coherence tomography and fundus fluorescein angiography images of Case 1.

A heterozygous missense mutation c.202T>C, (p.Ser68Pro) in exon 1 of the VHL gene.

Preoperative and postoperative magnetic resonance images of the CNS haemangioblastoma (Case 2).

Abdominal computerized tomography image of Case 2. Renal cell carcinoma in the right kidney (preoperatively).

Optical coherence tomography and fundus fluorescein angiography images of Case 2.

Sprache:: Englisch

Zeitrahmen der Veröffentlichung:: 2 Hefte pro Jahr
Fachgebiete der Zeitschrift:: Medizin, Vorklinische Medizin, Grundlagenmedizin, Vorklinische Medizin, Grundlagenmedizin, andere

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