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Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Human molecular genetics - 1 Mar 2006

Lefèvre Caroline, Bouadjar Bakar, Ferrand Véronique, Tadini Gianluca, Mégarbané André, Lathrop Mark, Prud'homme Jean-François, Fischer Judith

Abstract excerpt

We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five missense mutations and...

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PMID: 16436457
DOI: 10.1093/hmg/ddi491

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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