POLYCYSTIC KIDNEY DISEASE: DZIP1L defines a new functional zip code for autosomal recessive PKD

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Abstract

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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