case_images: PMC11750429_01
case_images: Clinical image. Flushed and swollen face, accompanied by edema of both eyelids and lips.
case_images: gr1.jpg
case_images: PMC11750429_01_gr1.jpg
case_images: fig1
case_images: Physical examination (Fig 1) revealed facial edema with erythema, including edema of both eyelids and lips.
case_images: Sequencing map. Heterozygous frameshift mutation of SERPING1 gene (NM_000062.3) c.6dup in peripheral blood samples of patients.
case_images: gr2.jpg
case_images: PMC11750429_01_gr2.jpg
case_images: fig2
case_images: Ser3Leufs*17 in SERPING1 gene at chr11:57,365,749 was identified (Fig 2).