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Based on clinical severity, constellation of the phenotypic manifestations, and the level of tissue separation within the cutaneous basement membrane zone (BMZ), EB has been divided into distinct subcategories. Traditionally, these include the simplex, junctional, and dystrophic forms of EB, and recently attention has been drawn to hemidesmosomal variants demonstrating tissue separation at the level of the hemidesmosomes. Specific mutations in ten distinct genes expressed within the cutaneous BMZ have been delineated in &gt;500 families with different variants of EB. The types of mutations, their positions along the affected genes, and their consequences at the mRNA and protein levels provide explanation for the phenotypic variability and genetic heterogeneity of this group of genodermatoses. Elucidation of mutations in different forms of EB has direct translational applications for improved diagnosis and molecularly based classification with prognostic implications as well as for genetic counseling and DNA\u2010based prenatal testing in families with EB. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30035","type":"journal-article","created":{"date-parts":[[2004,10,5]],"date-time":"2004-10-05T23:01:03Z","timestamp":1097017263000},"page":"61-74","source":"Crossref","is-referenced-by-count":81,"title":["Progress in epidermolysis bullosa: Genetic classification and clinical implications"],"prefix":"10.1002","volume":"131C","author":[{"given":"Jouni","family":"Uitto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.23.3143"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2000.03722.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00546.x"},{"key":"e_1_2_5_5_1","unstructured":"CassidyAJ LaneEB IrvineAD McLeanWHI.2002.The human intermediate filament mutation databasehttp:\/\/www.interfil.orgedn Dundee UK."},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119028"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.1996.tb00086.x"},{"key":"e_1_2_5_8_1","first-page":"199","article-title":"Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa","volume":"11","author":"Christiano AM","year":"1996","journal-title":"Adv Dermatol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"20256","DOI":"10.1016\/S0021-9258(17)31984-1","article-title":"Cloning of human type VII collagen. 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