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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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| Hlavní autoři: | , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2007
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| Témata: | |
| On-line přístup: | 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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