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COL14A1-pEDD

Previously: Punctate PPK type IB (PPPK IB)

pEDD Gene: COL14A1 AD

Onset: Childhood/adult

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Palmoplantar punctate papules sometimes coalescing into plaques.

References

Guo BR, Zhang X, Chen G et al. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet 2012; 49:563-8.

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