Genotype-Phenotype Correlation in von-Hippel-Lindau Disease with Retinal Angiomatosis

OBJECTIVES: To correlate the genotype of von Hippel-Lindau (VHL) mutations and the clinical characteristics of associated retinal hemangioblastomas (RCHs). DESIGN: Cross-sectional and molecular genetic study. PATIENTS AND METHODS: Of 890 VHL patients (327 pedigrees), 335 had ocular involvement in th...

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Detaylı Bibliyografya
Asıl Yazarlar: Wong, Wai T., Agrón, Elvira, Coleman, Hanna R., Reed, George F., Csaky, Karl, Peterson, James, Glenn, Gladys, Linehan, W. Marston, Albert, Paul, Chew, Emily Y.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2007
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3019103/
https://ncbi.nlm.nih.gov/pubmed/17296901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archopht.125.2.239
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