{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T05:10:17Z","timestamp":1759813817362},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T00:00:00Z","timestamp":1513641600000},"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":["Int J Dermatology"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ectodermal dysplasias (<jats:styled-content style=\"fixed-case\">ED<\/jats:styled-content>s) are a group of hereditary disorders defined by alterations in two or more ectodermal structures. One recently described rare entity is the autosomal recessive inherited ectodermal dysplasia\u2010syndactyly syndrome 1 (<jats:styled-content style=\"fixed-case\">EDSS<\/jats:styled-content>1). Homozygous and compound heterozygous missense and nonsense mutations in the poliovirus receptor related\u20104 (<jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>4) gene, encoding cell adhesion molecule nectin\u20104, have been identified as causal for <jats:styled-content style=\"fixed-case\">EDSS<\/jats:styled-content>1. We here report a consanguineous family with a 2\u2010year\u2010old girl featuring <jats:styled-content style=\"fixed-case\">EDSS<\/jats:styled-content>1, including slowly progressive alopecia on the head, pili torti\u2010like twisted hairs in trichoscopy, widely spaced, peg\u2010shaped and conical teeth, proximal syndactyly with fusion of the 2nd to 4th toes, and generalized dry skin. There was no palmoplantar hyperkeratosis and sweating appeared normal to slightly enhanced, especially on the head. Using exome sequencing, we identified the novel homozygous nonsense mutation c.229C&gt;T (p.Gln77Ter) in <jats:italic><jats:styled-content style=\"fixed-case\">PVRL<\/jats:styled-content>4<\/jats:italic>.<\/jats:p>","DOI":"10.1111\/ijd.13862","type":"journal-article","created":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T09:48:47Z","timestamp":1513676927000},"page":"223-226","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous mutation in <i><scp>PVRL<\/scp>4<\/i> causes ectodermal dysplasia\u2010syndactyly syndrome 1"],"prefix":"10.1111","volume":"57","author":[{"given":"Rupert","family":"Florian","sequence":"first","affiliation":[{"name":"Department of Dermatology Sozialmedizinisches Zentrum Ost (Donauspital) Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Gruber","sequence":"additional","affiliation":[{"name":"Department of Dermatology Medical University of Innsbruck Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatrix","family":"Volc\u2010Platzer","sequence":"additional","affiliation":[{"name":"Department of Dermatology Sozialmedizinisches Zentrum Ost (Donauspital) Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36616"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152419"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0001566000009910"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.18"},{"key":"e_1_2_5_8_1","first-page":"59","article-title":"Nectinopathies: an emerging group of ectodermal dysplasia syndromes","volume":"148","author":"Brancati F","year":"2013","journal-title":"G Ital Dermatol Venereol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.119"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1111\/ahg.12094","article-title":"A novel homozygous nonsense mutation in the PVRL4 Gene and expansion of clinical spectrum of EDSS1","volume":"79","author":"Raza S","year":"2014","journal-title":"Ann Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"crossref","DOI":"10.5070\/D3211025435","article-title":"Unusual manifestations of ectodermal dysplasia\u2010syndactyly syndrome type I in two Yemeni siblings","volume":"21","author":"Mohammad A","year":"2015","journal-title":"Dermatol Online J"},{"key":"e_1_2_5_12_1","unstructured":"NECTIN4 \u2010 Nectin\u20104 precursor \u2010 Homo sapiens (Human) \u2010 NECTIN4 gene & protein [WWW document]. Available at:http:\/\/www.uniprot.org\/uniprot\/Q96NY8(accessed 13 November 2016)."},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.09.014"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31367"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.12.957"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.5.291"}],"container-title":["International Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijd.13862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijd.13862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T03:18:14Z","timestamp":1695957494000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijd.13862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,19]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/ijd.13862"],"URL":"https:\/\/doi.org\/10.1111\/ijd.13862","archive":["Portico"],"relation":{},"ISSN":["0011-9059","1365-4632"],"issn-type":[{"value":"0011-9059","type":"print"},{"value":"1365-4632","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,19]]},"assertion":[{"value":"2017-08-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-12-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}