LIPN-nEDD
Previously: Lamellar ichthyosis, CIE, ARCI
nEDD
Gene: LIPN
AR
Onset:
Childhood (late-onset, noncongenital)
Pathway:
Lipid synthesis and transport
Category Paper:
nEDD Paper
Key Clinical Clues
Noncongenital generalized scaling.
References
Israeli S, Khamaysi Z, Fuchs-Telem D et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 2011; 88:482-7.
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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