A novel ABCA12 mutation 3270delT causes harlequin ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2006.07434.x/fullpdf
Reference14 articles.
1. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms;Akiyama;J Dermatol Sci,2006
2. Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses;Akiyama;Prenat Diagn,1998
3. Mutations in ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer;Akiyama;J Clin Invest,2005
4. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis;Kelsell;Am J Hum Genet,2005
5. Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes;Elias;J Invest Dermatol,2000
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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. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan;Pediatrics International;2015-07-14
3. Membrane transporters and the diseases corresponding to functional defects;Transporters in Drug Discovery and Development;2013
4. Novel ABCA-12 Mutations Leading to Recessive Congenital Ichthyosis;Pediatric Dermatology;2012-02-03
5. Mendelian Disorders of Cornification (MEDOC): The Ichthyoses;Harper's Textbook of Pediatric Dermatology;2011-05-24
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