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Article

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.

Experimental dermatology - 1 Apr 2013

Goldsmith Tomer, Fuchs-Telem Dana, Israeli Shirli, Sarig Ofer, Padalon-Brauch Gilly, Bergman Reuven, Indelman Margarita, Sprecher Eli, Nousbeck Janna

Abstract excerpt

Autosomal recessive congenital ichthyosis refers to a heterogeneous group of cornification disorders of major impact on patients' life. The disease has been linked so far to mutations in 8 distinct genes. We report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Using a panel of polymorphic microsatellite markers, we identified...

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Source

Identifiers

PMID: 23528209
DOI: 10.1111/exd.12110

Genes

ABCA12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12.PMID 23528209Read ↗

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