Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2011.01695.x/fullpdf
Reference4 articles.
1. Novel compound heterozygous nonsense and missense ABCA12 mutations lead to non-bullous congenital ichthyosiform erythroderma;Akiyama;Br J Dermatol,2008
2. ABCA12 is the major harlequin ichthyosis gene;Thomas;J Invest Dermatol,2006
3. A novel ABCA12 mutation 3270delT causes harlequin ichthyosis;Akiyama;Br J Dermatol,2006
4. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts;Akiyama;Hum Mutat,2010
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations;Molecular Genetics & Genomic Medicine;2019-03-27
2. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan;Pediatrics International;2015-07-14
3. Recent Advances in the Genetics and Management of Harlequin Ichthyosis;Pediatric Dermatology;2014-06-12
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