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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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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.
eISSN:
1311-0160
Idioma:
Inglés
Calendario de la edición:
2 veces al año
Temas de la revista:
Medicine, Basic Medical Science, other