{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:31:59Z","timestamp":1791318719945,"version":"4.3.1"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,3,13]],"date-time":"2014-03-13T00:00:00Z","timestamp":1394668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010322","name":"Pakistan Academy of Sciences","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010322","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Aust J Dermatology"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hypotrichosis is characterised by sparse scalp hair, sparse to absent eyebrows and eyelashes, or absence of hair from other parts of the body. In few cases, the condition is associated with tightly curled woolly scalp hair. The present study searched for disease\u2010causing sequence variants in the genes in four Pakistani lineal consanguineous families exhibiting features of hypotrichosis or woolly hair. A haplotype analysis established links in all four families to the\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">LIPH<\/jats:styled-content>\n                    <\/jats:italic>\n                    gene located on chromosome 3q27.2. Subsequently, sequencing\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">LIPH<\/jats:styled-content>\n                    <\/jats:italic>\n                    identified a novel non\u2010sense mutation (c.328C&gt;\n                    <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>\n                    ; p.\n                    <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>\n                    rg110*) in one and a previously reported 2\u2010bp deletion mutation (c.659_\n                    <jats:styled-content style=\"fixed-case\">660delTA<\/jats:styled-content>\n                    , p.\n                    <jats:styled-content style=\"fixed-case\">Ile220ArgfsX29<\/jats:styled-content>\n                    ) in three other families.\n                  <\/jats:p>","DOI":"10.1111\/ajd.12157","type":"journal-article","created":{"date-parts":[[2014,3,13]],"date-time":"2014-03-13T23:09:00Z","timestamp":1394752140000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Mutations in the lipase\u2010\n                    <scp>H<\/scp>\n                    gene causing autosomal recessive hypotrichosis and woolly hair"],"prefix":"10.1111","volume":"56","author":[{"given":"Sabba","family":"Mehmood","sequence":"first","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abid","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad 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Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghazanfar","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Zoology University of Azad Jammu and Kashmir  Muzaffarabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ayub","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry University of Baluchistan  Quetta Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasim","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islamabad 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