{"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":1791844634912,"version":"4.3.4"},"reference-count":17,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T00:00:00Z","timestamp":1599609600000},"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":["The Journal of Dermatology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive woolly hair\/hypotrichosis (ARWH\/H) is a rare form of congenital alopecia, which can be caused by mutations in lipase H (<jats:italic>LIPH<\/jats:italic>), lysophosphatidic acid receptor 6 (<jats:italic>LPAR6\/P2RY5<\/jats:italic>) or keratin 25 (<jats:italic>KRT25<\/jats:italic>) genes. We present a 32\u2010year\u2010old woman with typical clinical features of ARWH. Hair microscopy was performed to observe differences between the patient\u2019s hair and a normal sample. Next\u2010generation sequencing was used to detect pathogenic mutations. Sanger sequencing was used to further confirm the mutations. Abnormal hair appearance was found by hair microscopy. A novel frame\u2010shift mutation (NM_139248: c.686delinsGTAGAACCCAACCTGGCT: p.Asp229fs37X) and a reported mutation (NM_139248: exon6:c.T736A: p.C246S) in <jats:italic>LIPH<\/jats:italic> were identified in the patient. All reported mutations related to ARWH of various races were reviewed. Our study provides further evidence of the similarity of ARWH between the Chinese and Japanese population. A novel small\u2010insertion mutation also expands the <jats:italic>LIPH<\/jats:italic> mutation spectrum.<\/jats:p>","DOI":"10.1111\/1346-8138.15581","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T07:18:23Z","timestamp":1600672703000},"page":"1445-1449","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel small\u2010insertion mutation in the <i>LIPH<\/i> gene in a patient with autosomal recessive woolly hair\/hypotrichosis"],"prefix":"10.1111","volume":"47","author":[{"given":"Hongli","family":"Lv","sequence":"first","affiliation":[{"name":"Department of Dermatology Jiading District Central Hospital Affiliated Shanghai University of Medicine and Health Sciences Shanghai 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