case_images: PMC10321129_01
case_images: PMC10321129_02
case_images: The location of novel variant on CTNNB1 found in case 2. (A) Schematic location of the variant on CTNNB1. (B) Electropherogram of the patient, patient's mother, and patient's father (from the top). Blue arrow, the location of the variant.
case_images: fped-11-1201080-g001.jpg
case_images: PMC10321129_02_fped-11-1201080-g001.jpg
case_images: F1
case_images: In Sanger sequencing of the patient's asymptomatic parents, the variant was not found and was confirmed to be de novo (Figure 1).