eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pachyonychia congenita |
| Comorbidity | C0022596|palmoplantar keratoderma |
| Sentences | 2 |
| PubMedID- 24357266 | Mutation p.leu128pro in the 1a domain of k16 causes pachyonychia congenita with focal palmoplantar keratoderma in a chinese family. |
| PubMedID- 21668426 | A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma. |
Page: 1