Genotype–Phenotype Correlations of Pheochromocytoma in Two Large von Hippel–Lindau (VHL) Type 2A Kindreds With Different Missense Mutations

Von Hippel–Lindau (VHL) disease type 2A is an inherited tumor syndrome characterized by predisposition to pheochromocytoma (pheo), retinal hemangioma (RA), and central nervous system hemangioblastoma (HB). Specific VHL subtypes display genotype–phenotype correlations but, unlike other familial syndr...

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Detalhes bibliográficos
Main Authors: Nielsen, Sarah M., Rubinstein, Wendy S., Thull, Darcy L., Armstrong, Michaele J., Feingold, Eleanor, Stang, Michael T., Gnarra, James R., Carty, Sally E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3085839/
https://ncbi.nlm.nih.gov/pubmed/21204227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33760
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