{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T22:37:14Z","timestamp":1791844634454,"version":"4.3.4"},"reference-count":5,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,4,3]],"date-time":"2023-04-03T00:00:00Z","timestamp":1680480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by coarse, wiry, and twisted hair developing during early childhood, and followed by progressive hair loss with puberty. We report a sporadic case of a 4\u2010year\u2010old boy with clinical features suggestive of MUHH, in whom we identified the new pathogenic variant c.67C&gt;T; p.(Gln23*) in <jats:italic>U2HR<\/jats:italic>. This finding extends the known spectrum of <jats:italic>U2HR<\/jats:italic> variants underlying MUHH and increases genetic information for further genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1111\/pde.15306","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T04:29:50Z","timestamp":1680582590000},"page":"466-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a novel sporadic <i>U2HR<\/i> pathogenic variant in a patient with Marie Unna hereditary hypotrichosis"],"prefix":"10.1111","volume":"40","author":[{"given":"Tatjana","family":"Braun","sequence":"first","affiliation":[{"name":"Department of Paediatric Dermatology Cath. Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Wehner","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Teichler","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dermatology Cath. Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina C.","family":"Betz","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Bonn, Medical Faculty &amp; University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3268-7479","authenticated-orcid":false,"given":"Peter H.","family":"Hoeger","sequence":"additional","affiliation":[{"name":"Department of Paediatric Dermatology Cath. Children's Hospital Wilhelmstift  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.276"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2010.06.013"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2011.1573"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12193"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33649"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T04:50:50Z","timestamp":1697086250000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,3]]},"references-count":5,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["10.1111\/pde.15306"],"URL":"https:\/\/doi.org\/10.1111\/pde.15306","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,3]]},"assertion":[{"value":"2022-12-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}