{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T05:54:00Z","timestamp":1779256440329,"version":"3.51.4"},"reference-count":22,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2019,9]]},"DOI":"10.1016\/j.ejmg.2018.10.009","type":"journal-article","created":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T03:03:58Z","timestamp":1540177438000},"page":"103557","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report"],"prefix":"10.1016","volume":"62","author":[{"given":"Eliza","family":"Michalska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Koppolu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Dobrza\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dariusz","family":"Gruszfeld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.10.009_bib1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/j.molcel.2005.10.024","article-title":"p8\/TTD-A as a repair-specific TFIIH subunit","volume":"21","author":"Coin","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ejmg.2018.10.009_bib2","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1136\/jmedgenet-2014-102418","article-title":"A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A","volume":"52","author":"Corbett","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib3","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1126\/science.1070174","article-title":"Premature aging in mice deficient in DNA repair and transcription","volume":"296","author":"de Boer","year":"2002","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2018.10.009_bib4","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S1097-2765(00)80098-2","article-title":"A mouse model for the basal transcription\/DNA repair syndrome trichothiodystrophy","volume":"1","author":"De Boer","year":"1998","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ejmg.2018.10.009_bib5","doi-asserted-by":"crossref","DOI":"10.1136\/jmg.2008.058743","article-title":"Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations","author":"Faghri","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib6","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s12098-016-2209-9","article-title":"Brittle hair, photosensitivity, brain hypomyelination and immunodeficiency: clues to trichothiodystrophy","volume":"84","author":"Farmaki","year":"2017","journal-title":"Indian J. Pediatr."},{"key":"10.1016\/j.ejmg.2018.10.009_bib7","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2431-13-59","article-title":"A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants","volume":"13","author":"Fenton","year":"2013","journal-title":"BMC Pediatr."},{"key":"10.1016\/j.ejmg.2018.10.009_bib8","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng1387","article-title":"A new, tenth subunit TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A","volume":"36","author":"Giglia-Mari","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib9","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1067\/mjd.2001.114294","article-title":"Trichothiodystrophy: update on the sulfur deficient brittle hair syndromes","volume":"44","author":"Itin","year":"2001","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.ejmg.2018.10.009_bib10","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.2018.10.009_bib11","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.ajhg.2016.02.008","article-title":"GTF2E2 mutations destabilize the general transcription factor complex TFIIE in individuals with DNA repair-proficient trichothiodystrophy","volume":"98","author":"Kuschal","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib12","doi-asserted-by":"crossref","first-page":"2020","DOI":"10.1002\/ajmg.a.32902","article-title":"New clinico-genetic classification of trichothiodystrophy","volume":"149","author":"Morice-Picard","year":"2009","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib13","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1111\/1346-8138.12549","article-title":"Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene","volume":"41","author":"Moriwaki","year":"2014","journal-title":"J. Dermatol."},{"key":"10.1016\/j.ejmg.2018.10.009_bib14","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1177\/0883073815627880","article-title":"Whole exome sequencing in pediatric neurology patients: clinical implications and estimated cost analysis","volume":"31","author":"Nolan","year":"2016","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ejmg.2018.10.009_bib15","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1093\/hmg\/ddt143","article-title":"Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing","volume":"22","author":"Nonnekens","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib16","article-title":"Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?","author":"Ploski","year":"2014","journal-title":"Circ. Res."},{"key":"10.1016\/j.ejmg.2018.10.009_bib17","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1038\/nature05862","article-title":"Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age","volume":"447","author":"Rossi","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2018.10.009_bib18","doi-asserted-by":"crossref","DOI":"10.1016\/j.dnarep.2009.10.005","article-title":"Trichothiodystrophy: from basic mechanisms to clinical implications","author":"Stefanini","year":"2010","journal-title":"DNA Repair (Amst)"},{"key":"10.1016\/j.ejmg.2018.10.009_bib19","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.yexcr.2014.07.008","article-title":"TTDA: big impact of a small protein","volume":"329","author":"Theil","year":"2014","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ejmg.2018.10.009_bib20","doi-asserted-by":"crossref","first-page":"4689","DOI":"10.1093\/hmg\/ddx351","article-title":"Trichothiodystrophy causative TFIIE\u03b2 mutation affects transcription in highly differentiated tissue","volume":"26","author":"Theil","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib21","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003431","article-title":"Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality","volume":"9","author":"Theil","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ejmg.2018.10.009_bib22","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1038\/85864","article-title":"A temperature-sensitive disorder in basal transcription and DNA repair in humans","volume":"27","author":"Vermeulen","year":"2001","journal-title":"Nat. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121830586X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121830586X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:32Z","timestamp":1761709652000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121830586X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S176972121830586X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.10.009","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.10.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103557"}}