{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T21:57:09Z","timestamp":1764194229767},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T00:00:00Z","timestamp":1489104000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An 8\u2010year\u2010old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">DDEB<\/jats:styled-content>) presented with life\u2010threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous <jats:italic><jats:styled-content style=\"fixed-case\">COL<\/jats:styled-content>7A<\/jats:italic> mutations, one inherited from her <jats:styled-content style=\"fixed-case\">DDEB<\/jats:styled-content>\u2010affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (<jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>) in a family with milder, multigenerational autosomal dominant <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content>. Clinicians should recognize the clinical spectrum of dystrophic <jats:styled-content style=\"fixed-case\">EB<\/jats:styled-content> and recommend genetic consultation when the phenotype conflicts with family history.<\/jats:p>","DOI":"10.1111\/pde.13083","type":"journal-article","created":{"date-parts":[[2017,3,10]],"date-time":"2017-03-10T14:24:49Z","timestamp":1489155889000},"page":"166-171","source":"Crossref","is-referenced-by-count":4,"title":["Compound Heterozygosity of Dominant and Recessive <i><scp>COL<\/scp>7A<\/i> Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications"],"prefix":"10.1111","volume":"34","author":[{"given":"Kendra D.","family":"Watson","sequence":"first","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer J.","family":"Schoch","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geoffrey J.","family":"Beek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer L.","family":"Hand","sequence":"additional","affiliation":[{"name":"Department of Dermatology Mayo Clinic Rochester Minnesota"},{"name":"Department of Medical Genetics Mayo Clinic Rochester Minnesota"},{"name":"Department of Pediatric and Adolescent Medicine Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,10]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2014.01.903"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1962.156"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2002.04607.x"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1125"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00394.x"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2008.00636.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12265460"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1993.04540010056008"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00102.x"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1986.tb05707.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)90972-4"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12560795"},{"key":"e_1_2_4_14_1","first-page":"671","article-title":"Glycine substitutions in the triple\u2010helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance","volume":"58","author":"Christiano AM","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117783"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045302"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14312"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.13083","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.13083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T21:30:15Z","timestamp":1696023015000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.13083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/pde.13083"],"URL":"https:\/\/doi.org\/10.1111\/pde.13083","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}