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. 2020 May 7;11:464. doi: 10.3389/fgene.2020.00464

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Copyright © 2020 Mantovani, Bin, Graziano, Capelli, Minardi, Aiello, Ambrosini, Cristalli, Mattiaccio, Pariali, De Fanti, Faletra, Grosso, Cantone, Mancini, Mencarelli, Pasini, Wischmeijer, Sciascia, Seri and La Manna.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Two cases of mosaicism. (A) Family 16321, where the affected mother showed 6.9% of mutated PKD1 in peripheral blood. (B) Family 17747, where the proband showed 15.9% of mutated PKD1. The reads are visualized by Integrative Genome Viewer (IGV) software.