Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window
Author:
Publisher
John Libbey Eurotext
Subject
Dermatology
Link
https://link.springer.com/content/pdf/10.1684/ejd.2018.3436.pdf
Reference10 articles.
1. Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010; 31: 1090–6.
2. Fischer J. Autosomal recessive congenital ichthyosis. J Invest Dermatol 2009; 129: 1319–21.
3. Zhang L, Ferreyros M, Feng W, et al. Defects in stratum corneum desquamation are the predominant effect of impaired ABCA12 function in a novel mouse model of Harlequin ichthyosis. PLoS One 2016; 11: e0161465.
4. Fu Y, Mukhamedova N, Ip S, et al. ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis. Cell Metab 2013; 18: 225–38.
5. Liu F, Yang Y, Zheng Y, Liang YH, Zeng K. Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus. Mol Med Rep 2018; 18:3153–8.
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1. Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient;Pediatric Investigation;2020-03
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