Figure 1.
Figure 2.
Figure 3.
Figure 4.
j_bjmg-2022-0017_tab_001
| GENE | VARIANT | ZYGOSITY | VARIANT CLASSIFICATION |
|---|---|---|---|
| ZIC2 | c.818G>A (p.Cys273Tyr) | heterozygous | Likely Pathogenic |
| ZIC2 | c.1439C>T (p.Ser480Leu) | heterozygous | Uncertain Significance |
| CTNNB1 | c.1657A>G (p.Met553Val) | heterozygous | Uncertain Significance |
| PCLO | c.5293C>T (p.Pro1765Ser) | heterozygous | Uncertain Significance |
| PEX5 | c.1814G>A (p.Ser605Asn) | heterozygous | Uncertain Significance |
| PTPN23 | c.1603C>G (p.Gin535Glu) | heterozygous | Uncertain Significance |