Atypical TIMP3 defects may present a distinct disease mechanism of Sorsby Fundus Dystrophy.
Researchers based at the NEI’s Ophthalmic Genomics Laboratory, National Eye Institute, Bethesda, have reported anomalous TIMP3 variants with altering signal peptide function, distinct from classic Sorsby… Read More »Atypical TIMP3 defects may present a distinct disease mechanism of Sorsby Fundus Dystrophy.