{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:19:36Z","timestamp":1790194776496,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,6,5]],"date-time":"2016-06-05T00:00:00Z","timestamp":1465084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Regional Council of Burgundy","doi-asserted-by":"crossref","award":["PARI 2014"],"award-info":[{"award-number":["PARI 2014"]}],"id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>\n                    We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">MAB21L1<\/jats:styled-content>\n                    <\/jats:italic>\n                    detected by whole\u2010exome sequencing, considered as the most likely disease\u2010causing variant.\n                    <jats:italic>Mab21l1<\/jats:italic>\n                    knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">MAB21L1<\/jats:styled-content>\n                    <\/jats:italic>\n                    haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. Four cases from the literature were reported with features suggestive of a similar and recognizable clinical entity. We hypothesize that\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">MAB21L1<\/jats:styled-content>\n                    <\/jats:italic>\n                    should be the culprit gene in these patients.\n                  <\/jats:p>","DOI":"10.1111\/cge.12794","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T17:10:31Z","timestamp":1461345031000},"page":"333-338","source":"Crossref","is-referenced-by-count":20,"title":["Autosomal recessive truncating\n                    <i>\n                      <scp>MAB21L1<\/scp>\n                    <\/i>\n                    mutation associated with a syndromic scrotal agenesis"],"prefix":"10.1111","volume":"91","author":[{"given":"A.\u2010L.","family":"Bruel","sequence":"first","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon  Dijon France"},{"name":"G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Masurel\u2010Paulet","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Inter\u2010r\u00e9gion Est Centre Hospitalier Universitaire Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010B.","family":"Rivi\u00e8re","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon  Dijon 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G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Inter\u2010r\u00e9gion Est Centre Hospitalier Universitaire Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bensignor","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie Centre Hospitalier Universitaire Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Huet","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie Centre Hospitalier Universitaire Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Borgnon","sequence":"additional","affiliation":[{"name":"Chirurgie P\u00e9diatrique Centre Hospitalier Universitaire Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Roucher","sequence":"additional","affiliation":[{"name":"Endocrinologie Mol\u00e9culaire et Maladies Rares, Centre de Biologie et Pathologie Est Hospices Civils de Lyon  Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kuentz","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (TRANSLAD) Centre Hospitalier Universitaire Dijon  Dijon France"},{"name":"G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010F.","family":"Deleuze","sequence":"additional","affiliation":[{"name":"CEA\/Institut de G\u00e9nomique Centre National de G\u00e9notypage  Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et 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