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Immunol."},{"key":"10.1016\/j.dnarep.2023.103568_bib188","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1002\/em.21716","article-title":"A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity","volume":"53","author":"Falik-Zaccai","year":"2012","journal-title":"Environ. Mol. Mutagen."},{"key":"10.1016\/j.dnarep.2023.103568_bib189","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1002\/mds.870120428","article-title":"Neurological manifestations in two related xeroderma pigmentosum group D patients: complications of the late-onset type of the juvenile form","volume":"12","author":"Stojkovic","year":"1997","journal-title":"Mov. Disord."},{"key":"10.1016\/j.dnarep.2023.103568_bib190","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/S0921-8777(96)00024-9","article-title":"Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene","volume":"364","author":"Quilliet","year":"1996","journal-title":"Mutat. Res."},{"key":"10.1016\/j.dnarep.2023.103568_bib191","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1093\/hmg\/10.24.2797","article-title":"Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy","volume":"10","author":"Viprakasit","year":"2001","journal-title":"Hum. Mol. 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USA"},{"key":"10.1016\/j.dnarep.2023.103568_bib194","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/humu.20768","article-title":"Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy","volume":"29","author":"Boyle","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.dnarep.2023.103568_bib195","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.jdermsci.2017.10.015","article-title":"Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis","volume":"89","author":"Ben Rekaya","year":"2018","journal-title":"J. Dermatol. Sci."},{"key":"10.1016\/j.dnarep.2023.103568_bib196","first-page":"3456","article-title":"Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany","volume":"51","author":"Thielmann","year":"1991","journal-title":"Cancer Res."},{"key":"10.1016\/j.dnarep.2023.103568_bib197","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1111\/jdv.16405","article-title":"Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients","volume":"34","author":"Santiago","year":"2020","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"10.1016\/j.dnarep.2023.103568_bib198","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1016\/S0140-6736(74)90870-8","article-title":"Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case","volume":"2","author":"Ramsay","year":"1974","journal-title":"Lancet"},{"key":"10.1016\/j.dnarep.2023.103568_bib199","doi-asserted-by":"crossref","first-page":"6074","DOI":"10.1158\/0008-5472.CAN-07-6695","article-title":"Defective transcription\/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome","volume":"68","author":"Chigan\u00e7as","year":"2008","journal-title":"Cancer Res."},{"key":"10.1016\/j.dnarep.2023.103568_bib200","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1111\/cge.13957","article-title":"Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene","volume":"99","author":"Agolini","year":"2021","journal-title":"Clin. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib201","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1093\/hmg\/3.10.1783","article-title":"Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene","volume":"3","author":"Frederick","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib202","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1002\/ajmg.a.62048","article-title":"Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2","volume":"185","author":"Reunert","year":"2021","journal-title":"Am. J. Med. Genet. Part A."},{"key":"10.1016\/j.dnarep.2023.103568_bib203","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1620\/tjem.239.231","article-title":"Elevated urinary levels of 8-hydroxy-2\u2032-deoxyguanosine in a Japanese child of xeroderma pigmentosum\/cockayne syndrome complex with infantile onset of nephrotic syndrome","volume":"239","author":"Kondo","year":"2016","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.dnarep.2023.103568_bib204","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.0022-202X.2005.23745.x","article-title":"Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features","volume":"125","author":"Fujimoto","year":"2005","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib205","unstructured":"B.C. Broughton, A.F. Thompson, S.A. Harcourt, W. Vermeulen, J.H. J. Hoeijmakers, E. Botta, M. Stefanini, M.D. King, C.A. Weber, J. Cole, C.F. Arlett, A.R. Lehmann, Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome, Am. J. Hum. Genet. 56 (1995) 167\u2013174."},{"key":"10.1016\/j.dnarep.2023.103568_bib206","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/0022-510X(74)90057-4","article-title":"Neurological manifestations of xeroderma pigmentosum in two siblings","volume":"22","author":"Thrush","year":"1974","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.dnarep.2023.103568_bib207","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/321295","article-title":"Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy","volume":"69","author":"Graham","year":"2001","journal-title":"Am. J. Hum. 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Pediatr."},{"key":"10.1016\/j.dnarep.2023.103568_bib212","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/BF00588190","article-title":"MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S","volume":"34","author":"Peserico","year":"1992","journal-title":"Neuroradiology"},{"key":"10.1016\/j.dnarep.2023.103568_bib213","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1086\/302063","article-title":"Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: Site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity","volume":"63","author":"Botta","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib214","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1111\/j.1365-2133.1983.tb00068.x","article-title":"Trichothiodystrophy--BIDS, IBIDS and PIBIDS?","volume":"108","author":"Crovato","year":"1983","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib215","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00282072","article-title":"Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity","volume":"74","author":"Stefanini","year":"1986","journal-title":"Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib216","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/00019605-199401000-00001","article-title":"Syndromes associated with trichothiodystrophy","volume":"3","author":"Tolmie","year":"1994","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.dnarep.2023.103568_bib217","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1136\/jmg.21.4.286","article-title":"Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.","volume":"21","author":"King","year":"1984","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib218","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0921-8777(90)90020-6","article-title":"Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy","volume":"235","author":"Broughton","year":"1990","journal-title":"Mutat. Res. Repair."},{"key":"10.1016\/j.dnarep.2023.103568_bib219","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/ng0694-189","article-title":"Mutations in the xeroderma pigmentosum group D DNA repair\/transcription gene in patients with trichothiodystrophy","volume":"7","author":"Broughton","year":"1994","journal-title":"Nat. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib220","first-page":"817","article-title":"A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy","volume":"53","author":"Stefanini","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib221","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/0921-8777(92)90073-C","article-title":"DNA repair investigations in nine Italian patients affected by trichothiodystrophy","volume":"273","author":"Stefanini","year":"1992","journal-title":"Mutat. Res."},{"key":"10.1016\/j.dnarep.2023.103568_bib222","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1007\/BF00819509","article-title":"Central nervous system dysmyelination in PIBI(D)S syndrome: a further case","volume":"12","author":"Battistella","year":"1996","journal-title":"Child\u2019s Nerv. Syst."},{"key":"10.1016\/j.dnarep.2023.103568_bib223","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1046\/j.0022-202X.2004.22226.x","article-title":"Trichothiodystrophy fibroblasts are deficient in the repair of ultraviolet-induced cyclobutane pyrimidine dimers and (6-4)photoproducts","volume":"122","author":"Nishiwaki","year":"2004","journal-title":"J. Investig. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib224","doi-asserted-by":"crossref","first-page":"3448","DOI":"10.1002\/ajmg.a.62962","article-title":"Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2\/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis","volume":"188","author":"DiGiovanna","year":"2022","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.dnarep.2023.103568_bib225","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1111\/jdv.16134","article-title":"ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype","volume":"34","author":"Leemans","year":"2020","journal-title":"J. Eur. Acad. Dermatol. Venereol."},{"key":"10.1016\/j.dnarep.2023.103568_bib226","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1111\/j.1365-2133.1992.tb14845.x","article-title":"Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair","volume":"127","author":"Sarasin","year":"1992","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib227","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/0300-9084(95)90011-X","article-title":"Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient","volume":"77","author":"Eveno","year":"1995","journal-title":"Biochimie"},{"key":"10.1016\/j.dnarep.2023.103568_bib228","first-page":"263","article-title":"Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy","volume":"58","author":"Takayama","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib229","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1002\/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X","article-title":"DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient","volume":"9","author":"Takayama","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.dnarep.2023.103568_bib230","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.jaad.2010.03.041","article-title":"Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.","volume":"63","author":"Zhou","year":"2010","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib231","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1093\/hmg\/10.22.2539","article-title":"Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene","volume":"10","author":"Broughton","year":"2001","journal-title":"Hum. Mol. Genet"},{"key":"10.1016\/j.dnarep.2023.103568_bib232","doi-asserted-by":"crossref","first-page":"e203","DOI":"10.1111\/1346-8138.15787","article-title":"Mutation in the ERCC2 gene identified in a Chinese trichothiodystrophy patient","volume":"48","author":"Tao","year":"2021","journal-title":"J. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib233","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0188869","article-title":"Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients","volume":"13","author":"Ji","year":"2018","journal-title":"PLoS One"},{"key":"10.1016\/j.dnarep.2023.103568_bib234","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/humu.20912","article-title":"Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene","volume":"30","author":"Botta","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.dnarep.2023.103568_bib235","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1093\/carcin\/14.6.1101","article-title":"Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy","volume":"14","author":"Stefanini","year":"1993","journal-title":"Carcinogenesis"},{"key":"10.1016\/j.dnarep.2023.103568_bib236","unstructured":"S. Shin, J. Kim, Y. Kim, J.Y. Sun, J.H. Yoo, K.A. Lee, Analysis of mutations in the XPD gene in a patient with brittle hair, Ann. Clin. Lab. Sci. 43 (2013) 323\u2013327."},{"key":"10.1016\/j.dnarep.2023.103568_bib237","first-page":"1949","article-title":"[Trichothiodystrophy. Hair examination as a diagnostic tool].","volume":"155","author":"Hansen","year":"1993","journal-title":"Ugeskr. Laege"},{"key":"10.1016\/j.dnarep.2023.103568_bib238","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/cge.13545","article-title":"Heterogeneity and overlaps in nucleotide excision repair disorders","volume":"97","author":"Ferri","year":"2020","journal-title":"Clin. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib239","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1002\/pd.4965","article-title":"Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features","volume":"36","author":"Miguet","year":"2016","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.dnarep.2023.103568_bib240","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 counseling","volume":"98","author":"Baer","year":"2020","journal-title":"Clin. Genet."},{"key":"10.1016\/j.dnarep.2023.103568_bib241","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1111\/pde.13882","article-title":"Novel ERCC2 mutation in two siblings with trichothiodystrophy","volume":"36","author":"Lund","year":"2019","journal-title":"Pediatr. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib242","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1111\/j.1346-8138.2012.01662.x","article-title":"trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship","volume":"39","author":"Pehlivan","year":"2012","journal-title":"J. Dermatol."},{"key":"10.1016\/j.dnarep.2023.103568_bib243","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1111\/phpp.12225","article-title":"Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene","volume":"32","author":"Brauns","year":"2016","journal-title":"Photodermatol. Photoimmunol. Photomed."},{"key":"10.1016\/j.dnarep.2023.103568_bib244","article-title":"Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.","volume":"3","author":"Elliott","year":"2022","journal-title":"HGG Adv."},{"key":"10.1016\/j.dnarep.2023.103568_bib245","first-page":"1","article-title":"Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China","volume":"21","author":"Chen","year":"2021","journal-title":"BMC Pedia"},{"key":"10.1016\/j.dnarep.2023.103568_bib246","first-page":"6090","article-title":"Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light","volume":"48","author":"Lehmann","year":"1988","journal-title":"Cancer Res"},{"key":"10.1016\/j.dnarep.2023.103568_bib247","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2021-050360","article-title":"Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap","volume":"148","author":"Abiona","year":"2021","journal-title":"Pediatrics"},{"key":"10.1016\/j.dnarep.2023.103568_bib248","doi-asserted-by":"crossref","first-page":"3630","DOI":"10.1128\/MCB.01462-10","article-title":"Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts","volume":"31","author":"Theil","year":"2011","journal-title":"Mol. 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