{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:51:00Z","timestamp":1791805860810,"version":"4.3.4"},"reference-count":43,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T00:00:00Z","timestamp":1788566400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Children\u2019s Hospital of Fudan University","award":["2023(31)"],"award-info":[{"award-number":["2023(31)"]}],"id":[{"id":"https:\/\/ror.org\/05n13be63","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Huashan Hospital of Fudan University","award":["2024-027"],"award-info":[{"award-number":["2024-027"]}],"id":[{"id":"https:\/\/ror.org\/013q1eq08","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine","award":["XHEC-C-2017-109-2"],"award-info":[{"award-number":["XHEC-C-2017-109-2"]}],"id":[{"id":"https:\/\/ror.org\/0220qvk04","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Nonsyndromic hereditary hypotrichosis (NSHH) is a genetically heterogeneous disorder characterized by sparse or absent hair growth. Comprehensive genotype\u2013phenotype correlation analyses remain limited, particularly in the Chinese population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To define the genetic and phenotypic spectrum of NSHH in a Chinese cohort, and to explore genotype\u2013phenotype correlations with potential clinical utility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This observational multicentre study included 47 unrelated families (107 affected individuals) with clinically and genetically confirmed NSHH. Genetic analysis was performed using next-generation sequencing with Sanger validation. Clinical features, including age at onset, severity, hair shaft morphology and extracranial hair involvement, were systematically analysed and correlated with causative genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Eleven causative genes were identified in 47 unrelated families, with LIPH (n = 18; 38%), LSS (n = 10; 21%) and HRURF (n = 7, 15%) being the most prevalent. NSHH showed marked phenotypic heterogeneity with genotype-dependent patterns in age at onset, severity and hair shaft morphology. Congenital onset was common in those with LIPH, LSS and HRURF variants, whereas postnatal onset was seen in those with variants in APCDD1, KRT86 and HR. Preliminary genotype\u2013phenotype analysis of LIPH demonstrated allele-specific effects, with c.736T &amp;gt; A-associated variants linked to more severe hypotrichosis compared with c.742C &amp;gt; A. In HRURF, two recurrently affected regions were found, involving the start codon and the region encoding amino acids 23\u201328. Based on these findings, a preliminary phenotype-driven candidate-gene prioritization framework was proposed. Exploratory analysis of topical minoxidil showed variable treatment responses.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study defines the genetic architecture and genotype\u2013phenotype correlations of NSHH in the Chinese population and provides a preliminary phenotype-driven framework that may assist clinical evaluation and candidate-gene prioritization.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bjd\/ljag384","type":"journal-article","created":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T11:14:26Z","timestamp":1788520466000},"source":"Crossref","is-referenced-by-count":0,"title":["Distinct genotype\u2013phenotype patterns in nonsyndromic hereditary hypotrichosis: a multicentre Chinese cohort"],"prefix":"10.1093","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5270-7286","authenticated-orcid":false,"given":"Anqi","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-2902-4367","authenticated-orcid":false,"given":"Qiaoyu","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0885-9947","authenticated-orcid":false,"given":"Han","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Huashan Hospital, Fudan University, Shanghai Institute of Dermatology , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5440-6290","authenticated-orcid":false,"given":"Jianwen","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University , Hohhot ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4787-1587","authenticated-orcid":false,"given":"Jianbo","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Henan Provincial People\u2019s Hospital, Henan University People\u2019s Hospital , Zhengzhou ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3378-4676","authenticated-orcid":false,"given":"Chaolan","family":"Pan","sequence":"additional","affiliation":[{"name":"Institute of Dermatology, Shanghai Jiaotong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5298-3171","authenticated-orcid":false,"given":"Yumeng","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Dermatology, Shanghai Jiaotong University School of Medicine , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9893-5976","authenticated-orcid":false,"given":"Zhoukai","family":"Long","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9815-7116","authenticated-orcid":false,"given":"Wei","family":"He","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6504-6662","authenticated-orcid":false,"given":"Qin","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0027-4442","authenticated-orcid":false,"given":"Haisheng","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7317-7700","authenticated-orcid":false,"given":"Qin","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7439-4845","authenticated-orcid":false,"given":"Fuying","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2010-7505","authenticated-orcid":false,"given":"Rui","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-3946-3878","authenticated-orcid":false,"given":"Yuqi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3053-2756","authenticated-orcid":false,"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7540-4953","authenticated-orcid":false,"given":"Wenyu","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Huashan Hospital, Fudan University, Shanghai Institute of Dermatology , Shanghai ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,9,5]]},"reference":[{"key":"2026101207370477700_ljag384-B1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1093\/bjd\/ljad102","article-title":"A review of genotrichoses and hair pathology associated with inherited skin diseases","volume":"189","author":"Doolan","year":"2023","journal-title":"Br J Dermatol"},{"key":"2026101207370477700_ljag384-B2","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.jdermsci.2016.08.006","article-title":"Journey toward unraveling the molecular basis of hereditary hair disorders","volume":"84","author":"Shimomura","year":"2016","journal-title":"J Dermatol Sci"},{"key":"2026101207370477700_ljag384-B3","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1111\/cge.12531","article-title":"Genetics of human isolated hereditary hair loss disorders","volume":"88","author":"Basit","year":"2015","journal-title":"Clin Genet"},{"key":"2026101207370477700_ljag384-B4","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1038\/sj.jid.5700251","article-title":"An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis","volume":"126","author":"Zlotogorski","year":"2006","journal-title":"J Invest Dermatol"},{"key":"2026101207370477700_ljag384-B5","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1038\/nature08875","article-title":"APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex","volume":"464","author":"Shimomura","year":"2010","journal-title":"Nature"},{"key":"2026101207370477700_ljag384-B6","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/ng1163","article-title":"Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin","volume":"34","author":"Levy-Nissenbaum","year":"2003","journal-title":"Nat Genet"},{"key":"2026101207370477700_ljag384-B7","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1126\/science.1133276","article-title":"Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH","volume":"314","author":"Kazantseva","year":"2006","journal-title":"Science"},{"key":"2026101207370477700_ljag384-B8","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.ajhg.2018.09.011","article-title":"Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex","volume":"103","author":"Romano","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2026101207370477700_ljag384-B9","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ajhg.2012.10.022","article-title":"Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex","volume":"92","author":"Pasternack","year":"2013","journal-title":"Am J Hum Genet"},{"key":"2026101207370477700_ljag384-B10","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1038\/jid.2012.154","article-title":"A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair\/hypotrichosis","volume":"132","author":"Fujimoto","year":"2012","journal-title":"J Invest Dermatol"},{"key":"2026101207370477700_ljag384-B11","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1111\/j.1468-3083.2012.04472.x","article-title":"Mutations in LPAR6\/P2RY5 and LIPH are associated with woolly hair and\/or hypotrichosis","volume":"27","author":"Kurban","year":"2013","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2026101207370477700_ljag384-B12","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1038\/s41436-020-0794-5","article-title":"Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis","volume":"22","author":"Malki","year":"2020","journal-title":"Genet Med"},{"key":"2026101207370477700_ljag384-B13","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1111\/jdv.17350","article-title":"Isolated autosomal recessive woolly hair\/hypotrichosis: genetics, pathogenesis and therapies","volume":"35","author":"Akiyama","year":"2021","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2026101207370477700_ljag384-B14","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1111\/j.1365-2230.2011.04014.x","article-title":"Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis\/woolly hair in 17 consanguineous families from Pakistan","volume":"36","author":"Khan","year":"2011","journal-title":"Clin Exp Dermatol"},{"key":"2026101207370477700_ljag384-B15","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1111\/bjd.15070","article-title":"Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan","volume":"177","author":"Takeichi","year":"2017","journal-title":"Br J Dermatol"},{"key":"2026101207370477700_ljag384-B16","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1111\/j.1468-3083.2012.04526.x","article-title":"Prevalent founder mutation c.736T&gt;A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood","volume":"27","author":"Tanahashi","year":"2013","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2026101207370477700_ljag384-B17","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/bjd.14836","article-title":"Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair\/hypotrichosis with homozygous c.736T&gt;A LIPH mutation","volume":"176","author":"Kinoshita-Ise","year":"2017","journal-title":"Br J Dermatol"},{"key":"2026101207370477700_ljag384-B18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"2026101207370477700_ljag384-B19","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.1111\/1346-8138.15581","article-title":"Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair\/hypotrichosis","volume":"47","author":"Lv","year":"2020","journal-title":"J Dermatol"},{"key":"2026101207370477700_ljag384-B20","doi-asserted-by":"crossref","first-page":"e89261","DOI":"10.1371\/journal.pone.0089261","article-title":"Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair\/hypotrichosis in Japan and the genotype\/phenotype correlations","volume":"9","author":"Tanahashi","year":"2014","journal-title":"PLOS ONE"},{"key":"2026101207370477700_ljag384-B21","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pde.15306","article-title":"Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis","volume":"40","author":"Braun","year":"2023","journal-title":"Pediatr Dermatol"},{"key":"2026101207370477700_ljag384-B22","doi-asserted-by":"crossref","first-page":"e953","DOI":"10.1111\/j.1365-2230.2009.03644.x","article-title":"Identification of a U2HR gene mutation in Turkish families with Marie Unna hereditary hypotrichosis","volume":"34","author":"D\u00fczenli","year":"2009","journal-title":"Clin Exp Dermatol"},{"key":"2026101207370477700_ljag384-B23","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1111\/1346-8138.14811","article-title":"Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family","volume":"46","author":"Huang","year":"2019","journal-title":"J Dermatol"},{"key":"2026101207370477700_ljag384-B24","doi-asserted-by":"crossref","first-page":"2628","DOI":"10.1002\/ajmg.a.33649","article-title":"Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation","volume":"152","author":"Mansur","year":"2010","journal-title":"Am J Med Genet A"},{"key":"2026101207370477700_ljag384-B25","doi-asserted-by":"crossref","first-page":"223","DOI":"10.2147\/CCID.S487399","article-title":"Recalcitrant female pattern hair loss like alopecia unveils unexpected rare entity","volume":"18","author":"Nouh","year":"2025","journal-title":"Clin Cosmet Investig Dermatol"},{"key":"2026101207370477700_ljag384-B26","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1046\/j.1523-1747.2000.02001.x","article-title":"Marie Unna hereditary hypotrichosis gene maps to human chromosome 8p21 near hairless","volume":"114","author":"Sreekumar","year":"2000","journal-title":"J Invest Dermatol"},{"key":"2026101207370477700_ljag384-B27","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng.276","article-title":"Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis","volume":"41","author":"Wen","year":"2009","journal-title":"Nat Genet"},{"key":"2026101207370477700_ljag384-B28","doi-asserted-by":"crossref","first-page":"e182","DOI":"10.1111\/1346-8138.70124","article-title":"A Japanese case of Marie Unna hereditary hypotrichosis with a HRURF gene variant","volume":"53","author":"Yamamoto","year":"2026","journal-title":"J Dermatol"},{"key":"2026101207370477700_ljag384-B29","doi-asserted-by":"crossref","first-page":"1358","DOI":"10.1111\/ijd.12545","article-title":"Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis","volume":"53","author":"Yun","year":"2014","journal-title":"Int J Dermatol"},{"key":"2026101207370477700_ljag384-B30","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/ced.12711","article-title":"Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis","volume":"41","author":"Zhong","year":"2016","journal-title":"Clin Exp Dermatol"},{"key":"2026101207370477700_ljag384-B31","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1684\/ejd.2011.1573","article-title":"Identification of a novel U2HR mutation c.14C&gt;T in a Chinese patient with Marie Unna hereditary hypotrichosis","volume":"22","author":"Zhou","year":"2012","journal-title":"Eur J Dermatol"},{"key":"2026101207370477700_ljag384-B32","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1111\/pde.15982","article-title":"Clinical presentation of a family diagnosed with Marie Unna hereditary hypotrichosis 1 caused by a novel variant in HRURF","volume":"42","author":"Holm","year":"2025","journal-title":"Pediatr Dermatol"},{"key":"2026101207370477700_ljag384-B33","doi-asserted-by":"crossref","first-page":"e320","DOI":"10.1111\/j.1600-0625.2009.01042.x","article-title":"Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript","volume":"19","author":"Ramot","year":"2010","journal-title":"Exp Dermatol"},{"key":"2026101207370477700_ljag384-B34","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1111\/ijd.12193","article-title":"Marie Unna hereditary hypotrichosis: a recurrent c.74C&gt;T mutation in the U2HR gene and literature review","volume":"53","author":"Yang","year":"2014","journal-title":"Int J Dermatol"},{"key":"2026101207370477700_ljag384-B35","doi-asserted-by":"crossref","first-page":"e184","DOI":"10.1111\/1346-8138.13868","article-title":"Novel heterozygous mutation, c.74C&gt;G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family","volume":"44","author":"Yoshida","year":"2017","journal-title":"J Dermatol"},{"key":"2026101207370477700_ljag384-B36","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1007\/s12031-022-02074-y","article-title":"Expanding the phenotypic spectrum of APMR4 syndrome caused by a novel variant in LSS Gene","volume":"72","author":"Elaraby","year":"2022","journal-title":"J Mol Neurosci"},{"key":"2026101207370477700_ljag384-B37","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1111\/cge.14348","article-title":"Novel LSS variants in alopecia and intellectual disability syndrome:new case report and clinical spectrum of LSS-related rare disease traits","volume":"104","author":"Elbendary","year":"2023","journal-title":"Clin Genet"},{"key":"2026101207370477700_ljag384-B38","doi-asserted-by":"crossref","first-page":"2687","DOI":"10.1016\/j.jid.2022.03.023","article-title":"Biallelic variants in lanosterol synthase (LSS) cause palmoplantar keratoderma-congenital alopecia syndrome type 2","volume":"142","author":"Yang","year":"2022","journal-title":"J Invest Dermatol"},{"key":"2026101207370477700_ljag384-B39","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s40246-025-00798-7","article-title":"Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review","volume":"19","author":"Zhang","year":"2025","journal-title":"Hum Genomics"},{"key":"2026101207370477700_ljag384-B40","doi-asserted-by":"crossref","first-page":"e842","DOI":"10.1111\/jdv.18315","article-title":"Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations","volume":"36","author":"Wang","year":"2022","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"2026101207370477700_ljag384-B41","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1093\/bjd\/ljae451","article-title":"Effective therapy with simvastatin compound ointment in palmoplantar keratoderma induced by lanosterol synthase (LSS) gene variants","volume":"192","author":"Wang","year":"2025","journal-title":"Br J Dermatol"},{"key":"2026101207370477700_ljag384-B42","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1001\/jamadermatol.2020.2195","article-title":"Association of topical minoxidil with autosomal recessive woolly hair\/hypotrichosis caused by LIPH pathogenic variants","volume":"156","author":"Taki","year":"2020","journal-title":"JAMA Dermatol"},{"key":"2026101207370477700_ljag384-B43","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1111\/bjd.13790","article-title":"Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations","volume":"173","author":"Tanahashi","year":"2015","journal-title":"Br J Dermatol"}],"container-title":["British Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article-pdf\/doi\/10.1093\/bjd\/ljag384\/70966383\/ljag384.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article-pdf\/doi\/10.1093\/bjd\/ljag384\/70966383\/ljag384.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:37:21Z","timestamp":1791805041000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/bjd\/advance-article\/doi\/10.1093\/bjd\/ljag384\/8786100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,5]]},"references-count":43,"URL":"https:\/\/doi.org\/10.1093\/bjd\/ljag384","relation":{},"ISSN":["0007-0963","1365-2133"],"issn-type":[{"value":"0007-0963","type":"print"},{"value":"1365-2133","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,5]]},"article-number":"ljag384"}}