case_images: PMC10154083_01
case_images: (a) Patient's AIRE gene sequence analysis images: homozygous c.769C > T (p.Arg257Ter) mutation in exon 6. (b) His parents' heterozygous c.769C > T (p.Arg257Ter) mutation in exon 6.
case_images: CRII2023-2363760.001.jpg
case_images: PMC10154083_01_CRII2023-2363760.001.jpg
case_images: fig1
case_images: T, p.Arg257Ter) was detected (Figure 1).