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. 2024 Jan 20;2024:8860889. doi: 10.1155/2024/8860889

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Copyright © 2024 Kyriaki Papadopoulou-Legbelou et al.

This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Sanger sequencing (from the patient and parental samples): (a) the homozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the patient's sample (arrow); (b) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the maternal sample (arrow); (c) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the paternal sample (arrow).