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This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30029","type":"journal-article","created":{"date-parts":[[2004,9,27]],"date-time":"2004-09-27T16:01:34Z","timestamp":1096300894000},"page":"4-11","source":"Crossref","is-referenced-by-count":45,"title":["The keratins and their disorders"],"prefix":"10.1002","volume":"131C","author":[{"given":"Elizabeth L.","family":"Rugg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene 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