| Gene | Exon | Mutation | DNA Change | Protein Change | Controls | Patient | # Affected Relatives | Notes | Mutation details |
| DSP | 24 | G2375R | c.7123G>C | p.Gly2375Arg |
0/180
| TFC+; palmoplantar keratoderma and woolly hair; | 8 | The 8 family members died suddenly during young adulthood (ages 15 to 30 years). The affected family members died before the study was carried out. |
Mutation details
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