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1. Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab.

Author

Poulton, Cathryn, Gration, Dylan, Murray, Kevin, Baynam, Gareth, and Halbert, Anne

Subjects
*ICHTHYOSIS, *JOINT diseases, *PHENOTYPES, *SKIN, *DISEASES
Abstract

Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. [ABSTRACT FROM AUTHOR]

Published
2019
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