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. 2020 Oct 23;11:593407. doi: 10.3389/fgene.2020.593407

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Copyright © 2020 Sowińska-Seidler, Sztromwasser, Zawadzka, Sielski, Bukowska-Olech, Zawadzki, Kozłowski and Jamsheer.

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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Representation of compound heterozygous SFRP4 mutations identified in the examined family by means of whole genome sequencing (WGS). The proband (ID: 1) and her brother (ID: 2) were both demonstrated to carry two missense heterozygous variants c.161C>A and c.373T>A. Mutation c.161C>A (A) was present in heterozygosity in the unaffected mother, whereas variant c.373T>A (B) was shown in heterozygosity in the healthy father. Targeted Sanger sequencing validation of WGS results was represented by corresponding electropherograms for (A,B). Mutations were depicted with “M” and indicated by an arrow.