Original paper
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
Abstract
Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is a paucity of data on genotype–phenotype correlation in some populations. We compiled an English cohort of 146 individuals with recessive ichthyosis and assessed genotype–phenotype correlation. Deep phenotyping was undertaken by history‐taking and clinical...
Paper Details
Title
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
Published Date
Jun 6, 2019
Volume
182
Issue
3
Pages
729 - 737