{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T06:20:24Z","timestamp":1791008424743,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T00:00:00Z","timestamp":1663113600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T00:00:00Z","timestamp":1663113600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100006005","name":"Agence de la Biom\u00e9decine","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006005","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001819","name":"International Rett Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Andrologia"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1111\/and.14595","type":"journal-article","created":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T09:21:42Z","timestamp":1663147302000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Cryptic splice site poisoning and meiotic arrest caused by a homozygous frameshift mutation in\n            <scp>\n              <i>RBMXL2<\/i>\n            <\/scp>\n            : A case report"],"prefix":"10.1155","volume":"54","author":[{"given":"Farah","family":"Ghieh","sequence":"first","affiliation":[{"name":"UVSQ, INRAE, BREED Universit\u00e9 Paris\u2010Saclay  Jouy\u2010en\u2010Josas France"},{"name":"\u00c9cole Nationale V\u00e9t\u00e9rinaire d'Alfort, BREED  Maisons\u2010Alfort France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Izard","sequence":"additional","affiliation":[{"name":"Centre Chirurgical Pierre Cherest  Neuilly\u2010sur\u2010Seine France"},{"name":"D\u00e9partement d'urologie H\u00f4pital Foch  Suresnes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Poulain","sequence":"additional","affiliation":[{"name":"UVSQ, INRAE, BREED Universit\u00e9 Paris\u2010Saclay  Jouy\u2010en\u2010Josas France"},{"name":"\u00c9cole Nationale V\u00e9t\u00e9rinaire d'Alfort, BREED  Maisons\u2010Alfort France"},{"name":"D\u00e9partement d'urologie H\u00f4pital Foch  Suresnes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanne","family":"Fortemps","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique CHI de Poissy\/Saint\u2010Germain\u2010en\u2010Laye  Saint\u2010Germain\u2010en\u2010Laye France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2653-740X","authenticated-orcid":false,"given":"Nadia","family":"Kazdar","sequence":"additional","affiliation":[{"name":"Laboratoire Unilabs Eylau  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9atrice","family":"Mandon\u2010Pepin","sequence":"additional","affiliation":[{"name":"UVSQ, INRAE, BREED Universit\u00e9 Paris\u2010Saclay  Jouy\u2010en\u2010Josas France"},{"name":"\u00c9cole Nationale V\u00e9t\u00e9rinaire d'Alfort, BREED  Maisons\u2010Alfort France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Ferlicot","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique, AP\u2010HP Universit\u00e9 Paris\u2010Saclay, H\u00f4pital de Bic\u00eatre  Le Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Marc","family":"Ayoubi","sequence":"additional","affiliation":[{"name":"UVSQ, INRAE, BREED Universit\u00e9 Paris\u2010Saclay  Jouy\u2010en\u2010Josas France"},{"name":"\u00c9cole Nationale V\u00e9t\u00e9rinaire d'Alfort, BREED  Maisons\u2010Alfort France"},{"name":"D\u00e9partement d'urologie H\u00f4pital Foch  Suresnes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5774-2756","authenticated-orcid":false,"given":"Fran\u00e7ois","family":"Vialard","sequence":"additional","affiliation":[{"name":"UVSQ, INRAE, BREED Universit\u00e9 Paris\u2010Saclay  Jouy\u2010en\u2010Josas France"},{"name":"\u00c9cole Nationale V\u00e9t\u00e9rinaire d'Alfort, BREED  Maisons\u2010Alfort France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Laboratoire de Biologie M\u00e9dicale CHI de Poissy\/Saint\u2010Germain\u2010en\u2010Laye  Poissy France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms10324"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2021.2015672"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22063264"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2001"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.39304"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03343789"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.11.5717"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2018.12.014"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deac057"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000707"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.186585.114"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/15384101.2021.1889187"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg136"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0099270"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2016.46"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006704"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.685"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.7.933"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2004.01.007"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gah042"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1513682113"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1406192"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.29839"}],"container-title":["Andrologia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/and.14595","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/and.14595","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/and.14595","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T12:39:16Z","timestamp":1671539956000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/and.14595"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,14]]},"references-count":23,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1111\/and.14595"],"URL":"https:\/\/doi.org\/10.1111\/and.14595","archive":["Portico"],"relation":{},"ISSN":["0303-4569","1439-0272"],"issn-type":[{"value":"0303-4569","type":"print"},{"value":"1439-0272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,14]]},"assertion":[{"value":"2022-07-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}