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ABCA12-pEDD

Previously: ABCA12-associated PPK

pEDD Gene: ABCA12 AR

Onset: Childhood

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Focal keratoderma feet and keratoderma on palmar aspect of fingers.

References

Song D, Li J, Zhang F et al. A novel compound heterozygous variant in the ABCA12 gene associated with mild palmoplantar keratoderma. Indian J Dermatol Venereol Leprol 2024; https://doi.org/10.25259/IJDVL_438_2024 (Epub ahead of print).

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