Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.
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ABSTRACT:
SUBMITTER: Tang H
PROVIDER: S-EPMC8645175 | biostudies-literature | 2021 Dec
REPOSITORIES: biostudies-literature
Publications
Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis.
Tang Haiyan H Shi Xiaoliu X Zhang Guiying G
Clinical case reports 20211205 12
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. ...[more]
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