Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma

BACKGROUND: von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, retina, kidney, adrenal gland, and pancreas. The genotype-phenotype correlatio...

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Detalles Bibliográficos
Autores principales: Lee, Jee-Soo, Lee, Ji-Hyun, Lee, Kyu Eun, Kim, Jung Hee, Hong, Joon Mo, Ra, Eun Kyung, Seo, Soo Hyun, Lee, Seung Jun, Kim, Man Jin, Park, Sung Sup, Seong, Moon-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
https://www.ncbi.nlm.nih.gov/pubmed/27439424
http://dx.doi.org/10.1186/s12881-016-0306-2

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