Autosomal Recessive Congenital Ichthyosis

被引：127

作者：

Fischer, Judith ^{[1
]}

机构：

[1] CEA, Inst Genom, Ctr Natl Genotypage, F-910057 Evry, France

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2009年 / 129卷 / 06期

关键词：

LAMELLAR ICHTHYOSIS; MUTATIONS; GENE; EPIDERMIS; ALOX12B;

D O I：

10.1038/jid.2009.57

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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. Journal of Investigative Dermatology (2009) 129, 1319-1321. doi:10.1038/jid.2009.57

引用

页码：1319 / 1321

页数：3

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