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Article

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.

Clinical and experimental dermatology - 1 Dec 2013

Israeli S, Goldberg I, Fuchs-Telem D, Bergman R, Indelman M, Bitterman-Deutsch O, Harel A, Mashiach Y, Sarig O, Sprecher E

Abstract excerpt

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is the term given to a complex and heterogeneous group of cornification disorders associated with mutations in at least eight distinct genes. Mutation distribution and prevalence rates are instrumental for the design of diagnostic strategies in ARCI but have not yet been systematically explored in the Israeli population. Previous data suggest that the...

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Source

Identifiers

PMID: 23621129
DOI: 10.1111/ced.12148

Genes

TGM1
ABCA12
ALOXE3
LIPN
NIPAL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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