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

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

Balkan Journal of Medical Genetics
Volume 18 (2015): Issue 2 (December 2015)
By: S Kinyas,  SA Ozal,  H Guclu,  V Gurlu,  H Esgin and  H Gurkan  
Open Access
|Jul 2016

Figures & Tables

Abdominal computerized tomography image of case 1. Renal cell carcinoma in the left kidney (preoperatively).
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.
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.
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).
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).
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.
Optical coherence tomography and fundus fluorescein angiography images of Case 2.
DOI: https://doi.org/10.1515/bjmg-2015-0087 | Journal eISSN: 2199-5761
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Language: English
Page range: 65 - 70
Published on: Jul 9, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Central nervous system (CNS) hemangioblastoma,
Germline mutation,
Renal cell carcinoma,
Retinal hemangioblastoma (RH),
von Hippel-Lindau (VHL) disease
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 S Kinyas, SA Ozal, H Guclu, V Gurlu, H Esgin, H Gurkan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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