{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T11:31:41Z","timestamp":1770895901013,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T00:00:00Z","timestamp":1473292800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005153","name":"China National Funds for Distinguished Young Scientists","doi-asserted-by":"publisher","award":["no. 81425020"],"award-info":[{"award-number":["no. 81425020"]}],"id":[{"id":"10.13039\/501100005153","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005090","name":"Beijing Nova Program","doi-asserted-by":"publisher","award":["Z151100000315044"],"award-info":[{"award-number":["Z151100000315044"]}],"id":[{"id":"10.13039\/501100005090","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) is a rare genetic disorder which is divided into eight complementation groups: <jats:styled-content style=\"fixed-case\">XP\u2010A<\/jats:styled-content> to <jats:styled-content style=\"fixed-case\">XP\u2010G<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">XP\u2010V<\/jats:styled-content>. Some <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> patients demonstrate severe cutaneous and neurological manifestations, management of which requires timely diagnosis and intervention. We performed clinical evaluation and genetic analysis on 19 patients, the largest cohort of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> to date in China. Twenty\u2010three mutations from six groups were identified, 16 of which were novel. All patients developed marked freckle\u2010like pigmentation on sun\u2010exposed sites while patients with <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A, <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010D, <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010F and <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010G showed acute sunburn reactions. Only <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A patients displayed progressive neurological degeneration. A relatively larger proportion of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A and <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010C were found in Chinese <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> patients. One <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> case and two carriers were prenatally determined. This study extended the mutation spectrum of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> in China and may aid in the diagnosis and treatment of Chinese <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> patients.<\/jats:p>","DOI":"10.1111\/1346-8138.13576","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T12:33:31Z","timestamp":1473338011000},"page":"71-75","source":"Crossref","is-referenced-by-count":21,"title":["Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3379-3858","authenticated-orcid":false,"given":"Eray Yihui","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"},{"name":"Department of Dermatology Beijing Tsinghua Changgung Hospital Medical Center Tsinghua University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"},{"name":"Peking\u2010Tsinghua Center for Life Sciences Beijing China"},{"name":"Academy for Advanced Interdisciplinary Studies Peking University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimiao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiwen","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhihong","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiahui","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis on Dermatoses Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheng","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Dermatology Peking University First Hospital Beijing China"},{"name":"Beijing Key Laboratory of Molecular Diagnosis 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