Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Abstract Background Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and malignant tumors like retinal angioma, cerebellar hemangioblastoma, spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma,...

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Principais autores:	Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal
Formato:	Artigo
Idioma:	Inglês
Publicado:	SpringerOpen 2022-08-01
Series:	Egyptian Journal of Medical Human Genetics
Assuntos:	Von Hippel–Lindau syndrome Molecular sequencing data Copy number variation
Acceso en liña:	https://doi.org/10.1186/s43042-022-00338-1
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