PMC10321129_01
PMC10321129_02
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.
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PMC10321129_02_fped-11-1201080-g001.jpg
F1
In Sanger sequencing of the patient's asymptomatic parents, the variant was not found and was confirmed to be de novo (Figure 1).