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42,190 results
  • Highly Variable Disease Courses in Siblings with Stargardt Disease. [Journal Article]
    Ophthalmology 2019Valkenburg D, Runhart EH, … Hoyng CB
  • CONCLUSIONS: Phenotypic discordance between siblings with STGD1 carrying the same ABCA4 variants is a prevalent phenomenon. Although the FAF phenotypes are highly comparable between siblings, functional outcomes differ substantially. This complicates both sibling-based prognosis and genotype-phenotype correlations and has important implications for patient care and management.
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