{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T14:21:45Z","timestamp":1790778105475,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,15]],"date-time":"2022-01-15T00:00:00Z","timestamp":1642204800000},"content-version":"am","delay-in-days":379,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004571","name":"Minist\u00e8re des Affaires Sociales et de la Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004571","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1016\/j.ejmg.2020.104105","type":"journal-article","created":{"date-parts":[[2020,11,20]],"date-time":"2020-11-20T10:12:11Z","timestamp":1605867131000},"page":"104105","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"title":["Growth charts in Cockayne syndrome type 1 and type 2"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-2552","authenticated-orcid":false,"given":"Sarah","family":"Baer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Tuzin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter B.","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4868-5788","authenticated-orcid":false,"given":"Shehla","family":"Mohammed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaya","family":"Kubota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1055-9855","authenticated-orcid":false,"given":"Yvette","family":"van Ierland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Busa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimiliano","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Godelieve","family":"Morel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Michot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8554-6912","authenticated-orcid":false,"given":"Myriam","family":"Durand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy","family":"Obringer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0172-8752","authenticated-orcid":false,"given":"Nicolas","family":"Le May","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge","family":"Calmels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ejmg.2020.104105_bib1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/cge.13798","article-title":"Early-onset Nucleotide Excision repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling","volume":"98","author":"Baer","year":"2020","journal-title":"Clin Genet"},{"issue":"5","key":"10.1016\/j.ejmg.2020.104105_bib2","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1136\/jmedgenet-2017-104877","article-title":"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome","volume":"55","author":"Calmels","year":"2018","journal-title":"J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2020.104105_bib3","doi-asserted-by":"crossref","first-page":"756","DOI":"10.1038\/nrg2663","article-title":"Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity","volume":"10","author":"Cleaver","year":"2009","journal-title":"Nat. Rev. Genet."},{"issue":"105","key":"10.1016\/j.ejmg.2020.104105_bib4","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1136\/adc.21.105.52","article-title":"Dwarfism with retinal atrophy and deafness","volume":"21","author":"Cockayne","year":"1936","journal-title":"Arch. Dis. Child."},{"issue":"4","key":"10.1016\/j.ejmg.2020.104105_bib5","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1093\/ije\/dyg099","article-title":"The World health organization global database on child growth and malnutrition: methodology and applications","volume":"32","author":"de Onis","year":"2003","journal-title":"Int. J. Epidemiol."},{"key":"10.1016\/j.ejmg.2020.104105_bib6","first-page":"13545","article-title":"Heterogeneity and overlaps in nucleotide excision repair (NER) disorders","author":"Ferri","year":"2019","journal-title":"Clin. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2020.104105_bib7","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/0092-8674(95)90028-4","article-title":"The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH","volume":"82","author":"Henning","year":"1995","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.ejmg.2020.104105_bib8","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1086\/512486","article-title":"First reported patient with human ERCC1 deficiency has cerebro-oculo-facio- skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure","volume":"80","author":"Jaspers","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2020.104105_bib9","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.arr.2016.08.002","article-title":"Cockayne syndrome: clinical features, model systems and pathways","volume":"33","author":"Karikkineth","year":"2017","journal-title":"Ageing Res. Rev."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104105_bib10","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.ajhg.2013.04.007","article-title":"Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia","volume":"92","author":"Kashiyama","year":"2013","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104105_bib11","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.dnarep.2008.01.014","article-title":"Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy","volume":"7","author":"Kleijer","year":"2008","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.ejmg.2020.104105_bib12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/bs.apcsb.2019.01.003","article-title":"TFIIH: a multi-subunit complex at the cross-roads of transcription and DNA repair","volume":"115","author":"Kolesnikova","year":"2019","journal-title":"Adv Protein Chem Struct Biol"},{"issue":"3","key":"10.1016\/j.ejmg.2020.104105_bib13","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/ped.12635","article-title":"Nationwide survey of Cockayne syndrome in Japan: incidence, clinical course and prognosis","volume":"57","author":"Kubota","year":"2015","journal-title":"Pediatr. Int."},{"issue":"12","key":"10.1016\/j.ejmg.2020.104105_bib14","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1038\/s41580-019-0169-4","article-title":"The DNA damage response to transcription stress","volume":"20","author":"Lans","year":"2019","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"5\u20136","key":"10.1016\/j.ejmg.2020.104105_bib15","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.mad.2013.02.006","article-title":"Cockayne syndrome: the expanding clinical and mutational spectrum","volume":"134","author":"Laugel","year":"2013","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.ejmg.2020.104105_bib16","series-title":"GeneReviews\u00ae [Internet]","first-page":"1993","article-title":"Cockayne syndrome","author":"Laugel","year":"2019"},{"issue":"1","key":"10.1016\/j.ejmg.2020.104105_bib17","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1086\/301686","article-title":"Molecular analysis of mutations in the CSB (ERCC6) gene in patients with cockayne syndrome","volume":"62","author":"Mallery","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.ejmg.2020.104105_bib18","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/nrm3822","article-title":"Understanding nucleotide excision repair and its roles in cancer and ageing","volume":"15","author":"Marteijn","year":"2014","journal-title":"Nat. Rev. Mol. Cell Biol."},{"issue":"1","key":"10.1016\/j.ejmg.2020.104105_bib19","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320420115","article-title":"Cockayne syndrome: review of 140 cases","volume":"42","author":"Nance","year":"1992","journal-title":"Am. J. Med. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2020.104105_bib20","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1002\/ajmg.a.33933","article-title":"A comprehensive description of the severity groups in Cockayne syndrome","volume":"155","author":"Natale","year":"2011","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2020.104105_bib21","series-title":"Chapter 7 - Cockayne Syndrome","author":"Proietti-de-santis","year":"2019"},{"key":"10.1016\/j.ejmg.2020.104105_bib22","volume":"vol. 113","author":"Rapin","year":"2013"},{"key":"10.1016\/j.ejmg.2020.104105_bib23","series-title":"Generalized Additive Models for Location , Scale and Shape","first-page":"507","author":"Rigby","year":"2005"},{"issue":"11","key":"10.1016\/j.ejmg.2020.104105_bib24","first-page":"5806","article-title":"Molecular cloning of the human DNA excision repair gene ERCC-6","volume":"10","author":"Troelstra","year":"1990","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ejmg.2020.104105_bib25","series-title":"Cockayne Syndrome: the Many Challenges and Approaches to Understand a Multifaceted Disease","volume":"vol. 1","author":"Vessoni","year":"2020"},{"issue":"5","key":"10.1016\/j.ejmg.2020.104105_bib26","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/gim.2015.110","article-title":"The cockayne syndrome natural history (CoSyNH) study: clinical findings in 102 individuals and recommendations for care","volume":"18","author":"Wilson","year":"2016","journal-title":"Genet. Med."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220308156?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721220308156?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:49:21Z","timestamp":1761709761000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721220308156"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["S1769721220308156"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104105","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Growth charts in Cockayne syndrome type 1 and type 2","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2020.104105","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104105"}}