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We also identified a patient with a likely pathogenic variant in\n                    <jats:italic>SOX9<\/jats:italic>\n                    and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of\n                    <jats:italic>DXH37<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1038\/s41439-025-00322-2","type":"journal-article","created":{"date-parts":[[2025,9,7]],"date-time":"2025-09-07T22:07:27Z","timestamp":1757282847000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["DHX37 variants in patients with 46,XY disorders or differences of sex development"],"prefix":"10.1038","volume":"12","author":[{"given":"Yuko","family":"Katoh-Fukui","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Saito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Narumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1511-4820","authenticated-orcid":false,"given":"Atsushi","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Uehara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirohito","family":"Shima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kanno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5882-661X","authenticated-orcid":false,"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"key":"322_CR1","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1261\/rna.069609.118","volume":"25","author":"FM Boneberg","year":"2019","unstructured":"Boneberg, F. M. et al. Molecular mechanism of the RNA helicase DHX37 and its activation by UTP14A in ribosome biogenesis. RNA 25, 685\u2013701 (2019).","journal-title":"RNA"},{"key":"322_CR2","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1159\/000535969","volume":"97","author":"FR de Oliveira","year":"2023","unstructured":"de Oliveira, F. R. et al. DHX37 and the implications in disorders of sex development: an update review. Horm. Res. Paediatr. 97, 433\u2013444 (2023).","journal-title":"Horm. Res. Paediatr."},{"key":"322_CR3","doi-asserted-by":"publisher","first-page":"2341","DOI":"10.1210\/js.2019-00306","volume":"3","author":"F Buonocore","year":"2019","unstructured":"Buonocore, F. et al. Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD. J. Endocr. Soc. 3, 2341\u20132360 (2019).","journal-title":"J. Endocr. Soc."},{"key":"322_CR4","doi-asserted-by":"publisher","first-page":"5923","DOI":"10.1210\/jc.2019-00984","volume":"104","author":"TE da Silva","year":"2019","unstructured":"da Silva, T. E. et al. Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum. J. Clin. Endocrinol. Metab. 104, 5923\u20135934 (2019).","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"322_CR5","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1038\/s41436-019-0606-y","volume":"22","author":"K McElreavey","year":"2020","unstructured":"McElreavey, K. et al. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. Genet. Med. 22, 150\u2013159 (2020).","journal-title":"Genet. Med."},{"key":"322_CR6","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1159\/000515924","volume":"15","author":"H Zidoune","year":"2021","unstructured":"Zidoune, H. et al. Expanding DSD phenotypes associated with variants in the DEAH-Box RNA Helicase DHX37. Sex. Dev. 15, 244\u2013252 (2021).","journal-title":"Sex. Dev."},{"key":"322_CR7","doi-asserted-by":"publisher","first-page":"1093","DOI":"10.3390\/life13051093","volume":"13","author":"FR de Oliveira","year":"2023","unstructured":"de Oliveira, F. R. et al. DHX37 and NR5A1 variants identified in patients with 46,XY partial gonadal dysgenesis. Life 13, 1093 (2023).","journal-title":"Life"},{"key":"322_CR8","doi-asserted-by":"publisher","first-page":"e1797","DOI":"10.1210\/clinem\/dgac064","volume":"107","author":"NL Gomes","year":"2022","unstructured":"Gomes, N. L. et al. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46,XY differences of sex development. J. Clin. Endocrinol. Metab. 107, e1797\u2013e1806 (2022).","journal-title":"J. Clin. Endocrinol. 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