A novel ABCA12 mutation underlying a case of Harlequin ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2006.07291.x/fullpdf
Reference9 articles.
1. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis;Kelsell;Am J Hum Genet,2005
2. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer;Akiyama;J Clin Invest,2005
3. Base-calling of automated sequencer traces using phred. II. Error probabilities;Ewing;Genome Res,1998
4. Base-calling of automated sequencer traces using phred. I. Accuracy assessment;Ewing;Genome Res,1998
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1. Long‐term survival of harlequin ichthyosis in two siblings with novel ABCA12 mutations;International Journal of Dermatology;2023-08-21
2. Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster;PLOS Genetics;2020-01-13
3. ABCA 12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids;Pediatric Dermatology;2019-02-27
4. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan;Pediatrics International;2015-07-14
5. Techniques for Toddlers: Linear Band Incision for Harlequin Ichthyosis with Associated Compartment Syndrome;Pediatric Dermatology;2014-09
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