{"id":38700,"date":"2019-09-18T15:07:16","date_gmt":"2019-09-18T19:07:16","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38700-2\/"},"modified":"2024-01-29T09:58:56","modified_gmt":"2024-01-29T14:58:56","slug":"38700-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38700-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Mutation de novo de l&#8217;<em>ASXL3<\/em> chez un patient pr\u00e9sentant un retard global de d\u00e9veloppement, une microc\u00e9phalie et des anomalies craniofaciales<\/strong><\/h2>\n<p>Article de recherche original de D.L. Dinwiddie <em>et al.<\/em> (2013).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/1755-8794-6-32\">ici<\/a>.<\/p>\n<p>Ce rapport de cas d\u00e9crit une fille de 6 ans qui pr\u00e9sente une modification de l&#8217;<em>ASXL3<\/em> identifi\u00e9e par s\u00e9quen\u00e7age de l&#8217;exome entier. Les caract\u00e9ristiques que l&#8217;on pense associ\u00e9es \u00e0 la modification de l&#8217;<em>ASXL3<\/em> sont un retard de la parole et des retards de d\u00e9veloppement.<\/p>\n<p>Les chercheurs proposent que des modifications du g\u00e8ne <em>ASXL3<\/em> soient \u00e0 l&#8217;origine d&#8217;un syndrome nouvellement reconnu, caract\u00e9ris\u00e9 par un retard de d\u00e9veloppement global s\u00e9v\u00e8re, une taille inf\u00e9rieure \u00e0 la moyenne (petite taille), une taille de t\u00eate inf\u00e9rieure \u00e0 la moyenne (microc\u00e9phalie) et des diff\u00e9rences dans les traits du visage.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutation de novo de l&#8217;ASXL3 chez un patient pr\u00e9sentant un retard global de d\u00e9veloppement, une microc\u00e9phalie et des anomalies craniofaciales Article de recherche original de D.L. Dinwiddie et al. (2013). Lire le r\u00e9sum\u00e9 ici. Ce rapport de cas d\u00e9crit une fille de 6 ans qui pr\u00e9sente une modification de l&#8217;ASXL3 identifi\u00e9e par s\u00e9quen\u00e7age de l&#8217;exome [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38700"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38700"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38700\/revisions"}],"predecessor-version":[{"id":38705,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38700\/revisions\/38705"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38700"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}