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A male infant, who was born to a healthy non-consanguineous couple, exhibited brittle hair, hair loss ichthyosis, eczema, retinal pigmentation and hypospadias. He carried a novel heterozygous<jats:italic>ERCC2<\/jats:italic>variant. The maternal variant (c.2191-18_2213del) is a previous described genomic deletion that affects the splicing of intron 22. The paternal variant (c.1666-1G\u2009&gt;\u2009A), that occurs in the splice site of intron 17 and likely alters<jats:italic>ERCC2<\/jats:italic>gene function through aberrant splicing, has not been reported previously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our case reported a novel pathogenic variant in<jats:italic>ERCC2<\/jats:italic>, which expanded the known genetic variants associated with TTD.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12887-021-02585-4","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T18:02:52Z","timestamp":1615572172000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China"],"prefix":"10.1186","volume":"21","author":[{"given":"Jian-Dong","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Dong","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling-Ying","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong-Hua","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,12]]},"reference":[{"issue":"12","key":"2585_CR1","doi-asserted-by":"publisher","first-page":"1016","DOI":"10.1111\/j.1346-8138.2012.01662.x","volume":"39","author":"D Pehlivan","year":"2012","unstructured":"Pehlivan D, Cefle K, Raams A, Ozturk S, Baykal C, Kleijer WJ, Palanduz S, Jaspers NG. 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