Autosomal recessive congenital ichthyosis
- PMID: 19434086
- DOI: 10.1038/jid.2009.57
Autosomal recessive congenital ichthyosis
Abstract
Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et al., 2007), and it is now time to determine how the genetic and biochemical features correlate with the clinical phenotypes of patients. The story of ARCI provides an instructive example of synergy among geneticists, biochemists, and clinicians.
Comment on
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Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8. J Invest Dermatol. 2009. PMID: 19131948
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