{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T10:20:19Z","timestamp":1781691619673,"version":"3.54.5"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T00:00:00Z","timestamp":1680825600000},"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":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To date, more than 15 genes have been linked to syndromic and non\u2010syndromic hypotrichosis, among which the <jats:italic>LSS<\/jats:italic> gene encoding lanosterol synthase was recently linked to autosomal recessive isolated hypotrichosis. Here we report the case of a 6\u2010year\u2010old girl born to non\u2010consanguineous Iraqi parents and presenting with sparse lanugo hair since birth on the scalp, eyelashes, and eyebrows. Whole exome sequencing followed by Sanger sequencing allowed the detection of two novel compound heterozygous variants in <jats:italic>LSS<\/jats:italic> (p.Ile323Thr and p.Gly600Val). Reporting and investigating further cases with <jats:italic>LSS<\/jats:italic> variants might help establishing a better genotype\u2013phenotype correlation.<\/jats:p>","DOI":"10.1111\/pde.15320","type":"journal-article","created":{"date-parts":[[2023,4,8]],"date-time":"2023-04-08T02:34:55Z","timestamp":1680921295000},"page":"960-961","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Non\u2010syndromic hypotrichosis: A report of two novel variants in the <scp><i>LSS<\/i><\/scp> gene"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9422-9014","authenticated-orcid":false,"given":"Joelle","family":"El Hakim","sequence":"first","affiliation":[{"name":"Department of Dermatology, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7209-9359","authenticated-orcid":false,"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6257-6609","authenticated-orcid":false,"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andre","family":"Megarbane","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Beirut Lebanon"},{"name":"Institut J\u00e9r\u00f4me Lejeune  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2084-1267","authenticated-orcid":false,"given":"Jinia","family":"El\u2010Feghaly","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Pediatrics University of Rochester School of Medicine and Dentistry  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1970-0926","authenticated-orcid":false,"given":"Jinane","family":"El Khoury","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Gilbert and Rose\u2010Marie Chagoury School of Medicine Lebanese American University  Beirut Lebanon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.16204"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.011"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15679"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346\u20108138.15697"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62438"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15320","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T19:50:38Z","timestamp":1696535438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15320"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,7]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1111\/pde.15320"],"URL":"https:\/\/doi.org\/10.1111\/pde.15320","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,7]]},"assertion":[{"value":"2023-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}