Perinatal management of harlequin ichthyosis: a case report and literature review
Author:
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Link
http://www.nature.com/articles/jp2009100.pdf
Reference33 articles.
1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arital K et al. Mutations in ABCA12 in harlequin ichthyosis and functional rescue by corrective gene transfer. J Clin Invest 2005; 115: 1777–1784.
2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76 (5): 794–803.
3. Sakai K, Akiyama M, Sugiyama-Nakagiri Y, McMillan JR, Sawamura D, Shimizu H . Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Exp Dermatol 2007; 16 (11): 920–926.
4. Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M . Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res 2008; 49 (4): 697–714.
5. Milner ME, O’Guin WM, Holbrook KA, Dale BA . Abnormal lamellar granules in harlequin's ichthyosis. J Invest Dermatol 1992; 99: 824–829.
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