Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.

ABSTRACT: Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes. We present a rare case of ARCI that carried a novel null mutation and a novel splice site mutation in the CYP4F22 gene.

SUBMITTER: Tang H 

PROVIDER: S-EPMC8645175 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature