Fig. 1: Clinical manifestations, family information, and Sanger sequencing results. | Journal of Human Genetics

Fig. 1: Clinical manifestations, family information, and Sanger sequencing results.

From: DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance

Fig. 1

A, B Bilateral excessive bending of the fingers and toes; C pes cavus. D high arch of the hard palate and irregular tooth arrangement. E Family pedigree; the father had the same phenotype, but a genetic analysis was not performed. F Patient heterozygous DNA2 variant verified via Sanger sequencing. G A Normative control of the gene

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