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KLF4-pEDD

Previously: Autosomal dominant PPK

pEDD Gene: KLF4 AD
Onset: Infancy/childhood
Pathway: Transcription factors
Category Paper: pEDD Paper

Key Clinical Clues

Focal PPK, aquagenic.

Additional Cutaneous Features

Aquagenic

References

Malovitski K, Sarig O, Assaf S et al. Loss-of-function variants in KLF4 underlie autosomal dominant palmoplantar keratoderma. Genet Med 2022; 24:1085-95.

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

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