Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

[ 11 ] demonstrated that complete absence of VHL from an allele results in less frequent eye disease than a focally mutated or truncated protein, our current study observed a higher prevalence of bilateral involvement in patients with exon deletions (83.33%) than in those with point mutations (70%), although this difference did not reach statistical significance.

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