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Article

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

6 Jun 2019

Abstract excerpt

BACKGROUND: 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. OBJECTIVES: We compiled an English cohort of 146 individuals with recessive ichthyosis and assessed genotype-phenotype correlation. METHODS: Deep...

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PMID: 31168818
DOI: 10.1111/bjd.18211

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