PMC8416348_01
Clinical features and genetic sequencing data of the patient. (A) The pedigree of the family. (B) B-mode ultrasound demonstrated diffuse hyperechogenicity of the liver with a fine granular pattern. (C) Contrast-enhanced CT scan of abdomen shows a significantly enlarged liver with fatty change. (D) Sanger sequencing shows that the patient harbored homozygous mutations (c.454C>T, p.Q152*) in exon 6. The patient's parents and brother were all heterozygous for this mutation.
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F1
Her older brother was physically healthy (Figure 1A). B-mode ultrasound of the liver showed diffuse hepatomegaly with increased echogenicity (Figure 1B). Contrast-enhanced abdominal CT suggested significant hepatomegaly with fatty changes (Figure 1C).
PMC8416348_02