{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:28:13Z","timestamp":1791282493432,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T00:00:00Z","timestamp":1403740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. <jats:italic>EMX2<\/jats:italic> has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including <jats:italic>EMX2<\/jats:italic> reported to date. <jats:italic>EMX2<\/jats:italic> haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of <jats:italic>EMX2<\/jats:italic> have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36662","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T20:12:01Z","timestamp":1403813521000},"page":"2618-2622","source":"Crossref","is-referenced-by-count":30,"title":["Severe sex differentiation disorder in a boy with a 3.8\u2009Mb 10q25.3\u2013q26.12 microdeletion encompassing <i>EMX2<\/i>"],"prefix":"10.1002","volume":"164","author":[{"given":"Juliette","family":"Piard","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9 Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Mignot","sequence":"additional","affiliation":[{"name":"Service de 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