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• W2147918547 abstract "Autosomal recessive congenital ichthyosis (ARCI) is heterogeneous group of ichthyosis and consists of Harlequin ichthyosis (HI, MIM #242500), lamellar ichthyosis (LI, MIM #242304) and congenital ichthyosiform erythroderma (CIE, MIM #242100). Harlequin ichthyosis shows the severest phenotype and used to be almost fatal at birth [ [1] Akiyama M. Takizawa Y. Kokaji T. Shimizu H. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. Br J Dermatol. 2001; 144: 401-407 Crossref PubMed Scopus (35) Google Scholar ]. Even milder types of ARCI severely influence quality of life of patients. To date, mutations in 9 causative genes have been reported in ARCI, including ATP-binding cassette, subfamily a, member 12 (ABCA12) [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], transglutaminase 1 (TGM1) [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], arachidonate lipoxygenase 3 [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], arachidonate 12-lipoxygenase, 12R type (ALOX12B) [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], NIPA-like domain containing 4 [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], cytochrome P450, family 4, subfamily F, polypeptide 22 [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], lipase, family member N [ 2 Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar , 3 Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ], patatin-like phospholipase domain-containing 1 [ [3] Grall A. Guaguère E. Planchais S. Grond S. Bourrat E. Hausser I. et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012; 44: 140-147 Crossref PubMed Scopus (182) Google Scholar ] and ceramide synthase 3 [ [4] Radner F.P. Marrakchi S. Kirchmeier P. Kim G.J. Ribierre F. Kamoun B. et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet. 2013; 9: e1003536 Crossref PubMed Scopus (125) Google Scholar ]. However, mutations in these genes have been found in about 78% of ARCI patients [ [2] Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol. 2009; 129: 1319-1321 Abstract Full Text Full Text PDF PubMed Scopus (141) Google Scholar ]. Corrigendum to ‘Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia’ [Journal of Dermatological Science 78 (2015) 82–85]Journal of Dermatological ScienceVol. 79Issue 2PreviewThe authors regret that there was an error in Fig. 1B. The corrected figure is shown below. The authors would like to apologise for any inconvenience caused. Full-Text PDF" @default.
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• W2147918547 title "Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia" @default.
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