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Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>Xeroderma pigmentosum (XP) is a genetic disorder caused by defective repair of DNA damage. Affected patients are mutated in one of eight genes and develop skin pigmentation changes, skin cancers, ocular surface abnormalities, and, in some cases, acute sunburn and neurodegeneration. The XP proteins are involved in different steps in the repair of DNA damage. Examination of 89 patients, the largest reported cohort under long-term follow-up, by the same multidisciplinary team of clinicians and scientists has revealed unexpected clinical heterogeneity dependent on the affected gene and the exact mutation. Our findings provide new insights into the mechanisms of carcinogenesis, ocular surface disease, and neurodegeneration, as well as providing improved clinical management and more definitive prognostic predictions.<\/jats:p>","DOI":"10.1073\/pnas.1519444113","type":"journal-article","created":{"date-parts":[[2016,2,16]],"date-time":"2016-02-16T23:10:11Z","timestamp":1455664211000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":190,"title":["Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect"],"prefix":"10.1073","volume":"113","author":[{"given":"Hiva","family":"Fassihi","sequence":"first","affiliation":[{"name":"National Xeroderma Pigmentosum Service, Department of Photodermatology, St John\u2019s Institute of Dermatology, Guy\u2019s and St Thomas\u2019 Foundation Trust, London SE1 7EH, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieran","family":"Sethi","sequence":"additional","affiliation":[{"name":"King\u2019s College London, Kings Health Partners, Division of Genetics and Molecular Medicine, St John\u2019s Institute of Dermatology, Guy\u2019s Hospital, London SE1 9RT, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Fawcett","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Wing","sequence":"additional","affiliation":[{"name":"Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Chandler","sequence":"additional","affiliation":[{"name":"Genetics Department, Guy\u2019s Hospital, London SE1 9RT, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Genetics Department, Guy\u2019s Hospital, London SE1 9RT, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Craythorne","sequence":"additional","affiliation":[{"name":"National Xeroderma Pigmentosum Service, Department of Photodermatology, St John\u2019s Institute of Dermatology, Guy\u2019s and St Thomas\u2019 Foundation Trust, London SE1 7EH, United Kingdom;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M. 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