{"id":39176,"date":"2019-10-14T11:40:48","date_gmt":"2019-10-14T15:40:48","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/39176-2\/"},"modified":"2024-01-29T10:00:32","modified_gmt":"2024-01-29T15:00:32","slug":"39176-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/39176-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Un paradigme de novo pour le retard mental.<\/strong><\/h2>\n<p>(Remarque : le terme &#8220;retard mental&#8221; est d\u00e9pass\u00e9 ; nous utilisons d\u00e9sormais le terme &#8220;d\u00e9ficience intellectuelle&#8221;).<\/p>\n<p>Article de recherche original de L.E. Vissers <em>et al.<\/em> (2010).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21076407\">ici<\/a>.<\/p>\n<p>Les mutations du g\u00e8ne SYNGAP1 sont associ\u00e9es \u00e0 la d\u00e9ficience intellectuelle (DI). Ce rapport d\u00e9crit comment une mutation du SYNGAP1 a \u00e9t\u00e9 identifi\u00e9e chez un patient gr\u00e2ce au s\u00e9quen\u00e7age de l&#8217;exome entier. Ce r\u00e9sultat n&#8217;a \u00e9t\u00e9 observ\u00e9 chez aucun des parents (on parle de &#8220;<em>de novo&#8221;)<\/em> et est probablement \u00e0 l&#8217;origine de la d\u00e9ficience intellectuelle du patient.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Un paradigme de novo pour le retard mental. (Remarque : le terme &#8220;retard mental&#8221; est d\u00e9pass\u00e9 ; nous utilisons d\u00e9sormais le terme &#8220;d\u00e9ficience intellectuelle&#8221;). Article de recherche original de L.E. Vissers et al. (2010). Lire le r\u00e9sum\u00e9 ici. Les mutations du g\u00e8ne SYNGAP1 sont associ\u00e9es \u00e0 la d\u00e9ficience intellectuelle (DI). Ce rapport d\u00e9crit comment une [&hellip;]<\/p>\n","protected":false},"author":13,"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\/39176"}],"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\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=39176"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39176\/revisions"}],"predecessor-version":[{"id":39182,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/39176\/revisions\/39182"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=39176"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}