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. 2021 Dec 10;8:795216. doi: 10.3389/fmed.2021.795216

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Copyright © 2021 Gambino, Catalano, Marangoni, Geers, Moine, Boon, Smits and Ghisdal.

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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(A) Presence of the c.626C>T p.(Pro209Leu) variant (green block) at homozygous state in exon 6 of the TTC21B gene found through clinical exome sequencing and visualized in Integrative Genomics Viewer (IGV). (B) Presence of the variant at homozygous state in the patient and her cousin was confirmed by Sanger sequencing.