{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T14:49:25Z","timestamp":1787582965140,"version":"build-2736575974"},"reference-count":136,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be associated with extracutaneous manifestations, which are sometimes fatal. They are inherited in an autosomal recessive or autosomal dominant manner. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in epidermolysis bullosa, and on the correlation genotype\u2013phenotype.<\/jats:p>","DOI":"10.3390\/diagnostics12061325","type":"journal-article","created":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T07:05:07Z","timestamp":1653635107000},"page":"1325","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Epidermolysis Bullosa\u2014A Different Genetic Approach in Correlation with Genetic Heterogeneity"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6762-4067","authenticated-orcid":false,"given":"Monica-Cristina","family":"P\u00e2nzaru","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-4461","authenticated-orcid":false,"given":"Lavinia","family":"Caba","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Florea","sequence":"additional","affiliation":[{"name":"Department of Nephrology-Internal Medicine, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"},{"name":"Department of Nephrology-Internal Medicine, \u201cDr. C. I. Parhon\u201d Clinical Hospital, Carol I Street, No 50, 700503 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena Emanuela","family":"Braha","sequence":"additional","affiliation":[{"name":"\u201cC. I. Parhon\u201d National Institute of Endocrinology, 410087 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.18921","article-title":"Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility","volume":"183","author":"Has","year":"2020","journal-title":"Br. J. Dermatol."},{"key":"ref_2","unstructured":"Rimoin, D.L., Pyeritz, R.E., and Korf, B. (2013). Emery and Rimoin\u2019s Essential Medical Genetics, Elsevier."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e201904137","DOI":"10.1083\/jcb.201904137","article-title":"Hemidesmosomes modulate force generation via focal adhesions","volume":"219","author":"Wang","year":"2020","journal-title":"J. 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