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Case Reports
. 2021 Jun;34(3):921-924.
doi: 10.1007/s40620-020-00890-2. Epub 2021 Jan 20.

Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist

Affiliations
Case Reports

Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist

Marina Aksenova et al. J Nephrol. 2021 Jun.
No abstract available

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References

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    1. Flemming J, Marczenke M, Rudolph IM, Nielsen R, Storm T, Erik IC, Diecke S, Emma F, Willnow TE (2020) Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int 98:159–167. https://doi.org/10.1016/j.kint.2020.02.021 - DOI - PubMed - PMC
    1. Johannes L, Popoff V (2008) Tracing the retrograde route in protein trafficking. Cell 135:1175–1187. https://doi.org/10.1016/j.cell.2008.12.009 - DOI - PubMed

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