| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| TGFB3 | 5'UTR | UTR | c.-30G>A | - |
0/600
| TFC+ | 10 | Desmosomal genes not studied. Possible inhibitory effect |
Mutation details
|
| TGFB3 | 3'UTR | UTR | c.*495C>T | - |
0/600
| TFC+ | 1 | Desmosomal genes not studied.
Brother SCD, diagnosed on autospy |
Mutation details
|