This website uses cookies.
We use cookies to improve your online experience. By continuing to use our website we assume you agree to the placement of these cookies.
To learn more, you can find in our Privacy Policy.
Original paper

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

Volume: 182, Issue: 3, Pages: 729 - 737
Published: Jun 6, 2019
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
© 2025 Pluto Labs All rights reserved.
Step 1. Scroll down for details & analytics related to the paper.
Discover a range of citation analytics, paper references, a list of cited papers, and more.