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JUP-pEDD

Previously: Naxos disease

pEDD Gene: JUP AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Woolly hair, diffuse PPK; right ventricular arrhythmogenic cardiomyopathy.

Additional Cutaneous Features

Woolly hair

Additional Extracutaneous Features

Right ventricular arrhythmogenic cardiomyopathy

References

McKoy G, Protonotarios N, Crosby A et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 2000; 355:2119-24.

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