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Article

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.

European journal of human genetics : EJHG - 1 Nov 2017

Youssefian Leila, Vahidnezhad Hassan, Saeidian Amir Hossein, Sotoudeh Soheila, Mahmoudi Hamidreza, Daneshpazhooh Maryam, Aghazadeh Nessa, Adams Rebecca, Ghanadan Alireza, Zeinali Sirous, Fortina Paolo, Uitto Jouni

Abstract excerpt

There are at least 38 mutant genes known to be associated with the ichthyosis phenotypes, and autosomal recessive congenital ichthyosis (ARCI) is a specific subgroup caused by mutations in 13 different genes. Mutations in some of these genes, such as CERS3 with only two previous reports, are rare. In this study, we identified mutations in candidate genes in consanguineous families with ARCI with a next generation...

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Adolescent
Child
Child, Preschool
Gene Frequency
Ichthyosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28875980
DOI: 10.1038/ejhg.2017.137
PMCID: PMC5643971

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CERS3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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