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NKPD1-nEDD

Previously: Autosomal dominant lamellar ichthyosis

nEDD Gene: NKPD1 AD
Onset: Birth
Pathway: Lipid synthesis and transport
Category Paper: nEDD Paper

Key Clinical Clues

Generalized mild lamellar scaling and mild PPK.

References

Komlosi K, Glocker C, Hsu-Rehder H-H et al. Autosomal dominant lamellar ichthyosis due to a missense mutation in the gene NKPD1. J Invest Dermatol 2024; 144:2754-63.

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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