Author

Kristina Pfau

1 paper indexed here

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Open access Sep 2026

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

This case series examines the anatomical and functional phenotype of a variant in EFEMP1, p.Arg140Trp, and its associations with retinal degeneration.

Chloe M. Stanton, G. Ansari, Kristina Pfau et al. · JAMA ophthalmology · 0 citations