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SDR9C7-nEDD

Previously: Lamellar ichthyosis, ARCI

nEDD Gene: SDR9C7 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

SDR9C7-nEDD: brownish-hued scales on the anterior legs and knees.

Key Clinical Clues

Fine semi-adherent greyish-white scales on the trunk and extremities, scaling over the knees and dorsal hands, PPK.

References

Shigehara Y, Okuda S, Nemer G et al. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. Hum Mol Genet 2016; 25:4484-93.

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