{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:32Z","timestamp":1756339532268,"version":"3.44.0"},"reference-count":15,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,9,14]]},"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>Xeroderma pigmentosum\u2013Cockayne syndrome complex (XP\u2013CS) is exceedingly rare, with 43 cases described over the past five decades; 21 of these cases exhibited mutations in the ERCC5 endonuclease associated with xeroderma pigmentosum, group G.<\/jats:p>\n               <jats:p>We report the first known phenotypic characterisation of the homozygous chromosome 13 <jats:italic>ERCC5<\/jats:italic>, Exon 11, c.2413G&gt;A (p.Gly805Arg) missense mutation in a female toddler presenting with findings of both XP and CS.<\/jats:p>\n               <jats:p>Her severe presentation also questions previous hypotheses that only truncating mutations and early missense mutations of XPG are capable of producing the dire findings of XP\u2013CS.<\/jats:p>","DOI":"10.1136\/bcr-2022-253358","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T11:50:26Z","timestamp":1697543426000},"page":"e253358","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Characterisation of a novel missense mutation in the <i>ERCC5<\/i> gene leading to group G xeroderma pigmentosum\/Cockayne syndrome overlap"],"prefix":"10.1136","volume":"16","author":[{"given":"William Christopher","family":"Stehnach","sequence":"first","affiliation":[{"name":"Graduate Medical Education, Edward Via College of Osteopathic Medicine, Virginia Campus, Blacksburg, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron","family":"Cantor","sequence":"additional","affiliation":[{"name":"Dermatology, Naval Medical Center Portsmouth, Portsmouth, Virginia, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Bongiorno","sequence":"additional","affiliation":[{"name":"Walter Reed National Military Medical Center, Bethesda, Maryland, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,10,17]]},"reference":[{"key":"2025082709481713000_16.10.e253358.1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"2025082709481713000_16.10.e253358.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"2025082709481713000_16.10.e253358.3","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.110"},{"key":"2025082709481713000_16.10.e253358.4","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0616-2","article-title":"Xeroderma Pigmentosum-Cockayne syndrome complex","volume":"12","author":"Natale","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2025082709481713000_16.10.e253358.5","unstructured":"Kraemer KH , DiGiovanna JJ , Pigmentosum TDX . 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