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Von Hippel‐Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina… Click to show full abstract
Von Hippel‐Lindau (VHL) disease is an autosomal dominant disorder caused by pathogenic variants in VHL gene. The common manifestations include hemangioblastomas (HB) of the central nervous system (CNS) and retina (RH); pheochromocytoma (PHEO); clear cell renal cell carcinoma (ccRCC); pancreatic and renal cysts (PRC) and pancreatic neuroendocrine neoplasm (PNEN).
Keywords:
comprehensive characterization;
von hippel;
hippel lindau;
disease
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2023
Link to full text (if available)
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recommendations!