Germline variants in the Von Hippel-Lindau tumor suppressor gene in Cuban patients

Abstract Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple cysts in the pancreas and kidneys, renal carcinoma, and pheochromocytom...

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Prif Awduron:	Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes, Teresa Collazo Mesa
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	SpringerOpen 2024-03-01
Cyfres:	Egyptian Journal of Medical Human Genetics
Pynciau:	Von Hippel-Lindau syndrome VHL gene VHL protein Genetic testing Mutations
Mynediad Ar-lein:	https://doi.org/10.1186/s43042-024-00506-5
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