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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 juil. 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

Édition 18 (2015): Edition 2 (Décembre 2015)

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Catégorie d'article: Case Report

Publié en ligne: 09 juil. 2016

Pages: 65 - 70

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

Mots clés
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.

Langue:: Anglais

Périodicité:: 2 fois par an
Sujets de la revue:: Médecine, Sciences médicales de base, Sciences médicales de base, autres

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