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Published in 2025 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2025.1637005
Abstract: Lowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. The phenotype manifests in the eyes, brain and kidney, with the extra-renal features milder in the case of…
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Keywords:
syndrome dent;
modelling lowe;
lowe syndrome;
dent ... See more keywords