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KRT1-pEDD-striate

Previously: Striate PPK 3

pEDD Gene: KRT1 AD

Onset: Childhood

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Focal keratoderma on palms, striate on the fingers.

References

Whittock NV, Smith FJ, Wan H et al. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002; 118:838-44.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer