{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:16:25Z","timestamp":1787008585043,"version":"build-2736575974"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004941","name":"Guy\u2019s and St Thomas\u2019 NHS Foundation Trust. T.R.","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004941","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Beasiswa Pendidikan Pascasarjana Luar Negeri Direktorat Jenderal Pendidikan Tinggi"},{"DOI":"10.13039\/501100005980","name":"Ministry of Education and Culture","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005980","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000296","name":"British Skin Foundation Young Investigator Award","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000296","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,7]]},"abstract":"<jats:p>Hypotrichosis 12 (HYPT12) is an autosomal dominant, nonsyndromic hypotrichosis, caused by a pathogenic variant in the RPL21 gene encoding ribosomal protein L21, although only two pedigrees harbouring the amino acid substitution, p.Arg32Gln, have been reported previously. We present the case of a 44-year-old White British man with progressive hair loss since the age of 10\u2005months, affecting his scalp, eyebrow, eyelashes and most of his body. Similar hair loss also affected several members of his family, with likely autosomal dominant inheritance. Using whole-exome sequencing, we identified a rare heterozygous missense variant (NM_000982.3:c.127A &amp;gt; G, NP_000973.2:p.Lys43Glu) in RPL21, and subsequent Sanger sequencing confirmed segregation of this variant in affected family members.<\/jats:p>","DOI":"10.1093\/ced\/llad102","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T02:45:45Z","timestamp":1679021145000},"page":"840-843","source":"Crossref","is-referenced-by-count":2,"title":["A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex"],"prefix":"10.1093","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6492-4160","authenticated-orcid":false,"given":"Tuntas","family":"Rayinda","sequence":"first","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"},{"name":"Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada , Yogyakarta , Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7977-6028","authenticated-orcid":false,"given":"Sheila M","family":"McSweeney","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiva","family":"Fassihi","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Fenton","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Liu","sequence":"additional","affiliation":[{"name":"Viapath, Guy\u2019s and St Thomas\u2019 NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0526-3443","authenticated-orcid":false,"given":"Catherine M","family":"Stefanato","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1805-6278","authenticated-orcid":false,"given":"Nick","family":"Dand","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics, King\u2019s College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-9964","authenticated-orcid":false,"given":"John A","family":"McGrath","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1662-4494","authenticated-orcid":false,"given":"Christos","family":"Tziotzios","sequence":"additional","affiliation":[{"name":"St John\u2019s Institute of Dermatology, King\u2019s College London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"2023101015304370200_llad102-B1","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1002\/humu.21503","article-title":"Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex","volume":"32","author":"Zhou","year":"2011","journal-title":"Hum Mutat"},{"key":"2023101015304370200_llad102-B2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/1346-8138.16204","article-title":"Update of recent findings in genetic hair disorders","volume":"49","author":"Hayashi","year":"2022","journal-title":"J 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