{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T21:01:48Z","timestamp":1760043708199,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81201220 & 81271744"],"award-info":[{"award-number":["81201220 & 81271744"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Dermatology"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Epidermolysis bullosa simplex with muscular dystrophy (EBS\u2010MD; OMIM 226670) is an autosomal recessive form of EBS, characterized by skin blistering at birth and delayed onset of muscle dystrophy. Mutations in PLEC, the gene encoding plectin, have been identified to be causal for EBS\u2010MD. We report a case of EBS\u2010MD with diffuse alopecia. Genetic study revealed the patient carrying compound heterozygous mutations in PLEC despite the consanguineous parentage.<\/jats:p>","DOI":"10.1111\/ijd.12655","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T02:47:18Z","timestamp":1410403638000},"page":"185-187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Compound heterozygous <i><scp>PLEC<\/scp><\/i> mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia"],"prefix":"10.1111","volume":"54","author":[{"given":"Jinghua","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Ren","sequence":"additional","affiliation":[{"name":"Laboratory of Electron Microscopy Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2010.01.001"},{"key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1001\/archderm.1989.01670190065007","article-title":"Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases","volume":"125","author":"Fine JD","year":"1989","journal-title":"Arch Dermatol"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.cnd.0000159779.32828.e7"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00461.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-450"},{"key":"e_1_2_5_7_1","doi-asserted-by":"crossref","first-page":"2477","DOI":"10.1242\/jcs.111.17.2477","article-title":"Role of plectin in cytoskeleton organization and dynamics","volume":"111","author":"Wiche G","year":"1998","journal-title":"J Cell Sci"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21330"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21189"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1982.01650180009008"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.det.2009.10.008"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.12655","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.12655","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T12:10:12Z","timestamp":1695557412000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.12655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1111\/ijd.12655"],"URL":"https:\/\/doi.org\/10.1111\/ijd.12655","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"type":"print","value":"0011-9059"},{"type":"electronic","value":"1365-4632"}],"subject":[],"published":{"date-parts":[[2014,9,10]]},"assertion":[{"value":"2014-09-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}