PMC10154083_01
(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.
CRII2023-2363760.001.jpg
PMC10154083_01_CRII2023-2363760.001.jpg
fig1
T, p.Arg257Ter) was detected (Figure 1).