case_images: PMC11810976_01
case_images: (A) Dysmorphic face of Patient 1 (B) Pedigree of Patient 1, 2.
case_images: fgene-16-1502756-g001.jpg
case_images: PMC11810976_02_fgene-16-1502756-g001.jpg
case_images: F1
case_images: There was no family history of genetic disorders or developmental delays, nor any prior history of surgeries (Figure 1B).
case_images: Summary of CTNNB1 variants categorized with phenotype severity. The variants in our study are marked in red.
case_images: fgene-16-1502756-g002.jpg
case_images: PMC11810976_01_fgene-16-1502756-g002.jpg
case_images: F2
case_images: This allowed us to predict the harmfulness of the new variant located in a region near previously reported pathogenic variant locations within exon 8 (Figure 2).
case_images: PMC11810976_02
case_images: (A) Dysmorphic face of Patient 1 (B) Pedigree of Patient 1, 2.
case_images: fgene-16-1502756-g001.jpg
case_images: PMC11810976_02_fgene-16-1502756-g001.jpg
case_images: F1
case_images: There was no family history of genetic disorders or developmental delays, nor any prior history of surgeries (Figure 1B).
case_images: PMC11810976_03