{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T12:13:26Z","timestamp":1764936806445},"reference-count":5,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,8]],"date-time":"2015-12-08T00:00:00Z","timestamp":1449532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004681","name":"Higher Education Commission, Pakistan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004681","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypotrichosis is a condition of abnormal hair pattern characterized by sparse to absent hair on different parts of the body, including the scalp. The condition is often characterized by tightly curled woolly hairs, discoloration of hair, and development of multiple keratin filled cysts or papules on the body. Sequence analysis of the lipase H (<jats:italic><jats:styled-content style=\"fixed-case\">LIPH<\/jats:styled-content><\/jats:italic>) gene, mapped on chromosome 3q27.3, led to the identification of a novel frameshift deletion variant (c.932delC, p.Pro311Leufs*3) in one family and previously reported 2\u2010bp deletion (c.659_660del<jats:styled-content style=\"fixed-case\">TA<\/jats:styled-content>) in five other families, inherited hypotrichosis, and woolly hair in an autosomal recessive pattern. The study further extends the body of evidence that sequence variants in the <jats:italic><jats:styled-content style=\"fixed-case\">LIPH<\/jats:styled-content><\/jats:italic> gene result in hypotrichosis and woolly hair phenotype.<\/jats:p>","DOI":"10.1111\/pde.12727","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T13:46:25Z","timestamp":1449668785000},"source":"Crossref","is-referenced-by-count":5,"title":["Frameshift Sequence Variants in the Human Lipase\u2010H Gene Causing Hypotrichosis"],"prefix":"10.1111","volume":"33","author":[{"given":"Sabba","family":"Mehmood","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayed Hajan","family":"Shah","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Molecular Medicine Sindh Institute of Urology and Transplantation Karachi Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abid","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Younus","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farooq","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ayub","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Baluchistan Quetta Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,12,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019729"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.84"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.12157"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.19"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0507-7"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpde.12727","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.12727","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T06:06:44Z","timestamp":1695708404000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.12727"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,8]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1111\/pde.12727"],"URL":"https:\/\/doi.org\/10.1111\/pde.12727","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,8]]}}}