TABLE 3.
Patients carrying mutations in a CLDN gene and core PCP gene.
| CLDN gene | CLDN variant | PCP gene | PCP variant | Ethnicity |
| CLDN3 | p.A128T | CELSR1 | p.G934R | European |
| CLDN6 | p.R209Q | VANGL1 | p.C145C | European |
| CLDN16 | p.N223S | DVL2 | p.T535I | European |
| CLDN23 | p.A90T | DVL2 | p.T535I | European |