New findings demonstrate a link between mutations in DZIP1L and an autosomal recessive polycystic kidney disease (ARPKD)-like phenotype. Rather than focus on DZIP1L as a second genetic locus for ARPKD, we suggest these data identify the ciliary transition zone as a functional domain central to the pathogenesis of ARPKD.
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Hartung, E., Guay-Woodford, L. DZIP1L defines a new functional zip code for autosomal recessive PKD. Nat Rev Nephrol 13, 519–520 (2017). https://doi.org/10.1038/nrneph.2017.102
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DOI: https://doi.org/10.1038/nrneph.2017.102
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