{"id":38640,"date":"2019-09-27T08:46:31","date_gmt":"2019-09-27T12:46:31","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38640-2\/"},"modified":"2024-01-29T09:58:22","modified_gmt":"2024-01-29T14:58:22","slug":"38640-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38640-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Extension du ph\u00e9notype d&#8217;un variant de novo r\u00e9current dans le PACS1 causant une d\u00e9ficience intellectuelle<\/strong><\/h2>\n<p>Article de recherche original de D. Gadzicki <em>et al. <\/em>(2015).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25522177\">ici<\/a>.<\/p>\n<p>Les chercheurs ont trouv\u00e9 une personne pr\u00e9sentant une modification du PACS1 qui n&#8217;avait pas \u00e9t\u00e9 identifi\u00e9e auparavant. Tout comme les deux personnes dont le g\u00e8ne PACS1 a \u00e9t\u00e9 modifi\u00e9 et qui ont \u00e9t\u00e9 identifi\u00e9es en 2012, cet enfant pr\u00e9sentait une d\u00e9ficience intellectuelle, un retard de d\u00e9veloppement et d&#8217;autres probl\u00e8mes de sant\u00e9. Son changement de PACS1 \u00e9tait le m\u00eame que celui des personnes rapport\u00e9es par Schuurs-Hoeijmakers <em>et al. <\/em>en 2012. Ce cas apporte des preuves suppl\u00e9mentaires d&#8217;un possible syndrome g\u00e9n\u00e9tique <em>associ\u00e9 \u00e0 PACS1<\/em>.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Extension du ph\u00e9notype d&#8217;un variant de novo r\u00e9current dans le PACS1 causant une d\u00e9ficience intellectuelle Article de recherche original de D. Gadzicki et al. (2015). Lire le r\u00e9sum\u00e9 ici. Les chercheurs ont trouv\u00e9 une personne pr\u00e9sentant une modification du PACS1 qui n&#8217;avait pas \u00e9t\u00e9 identifi\u00e9e auparavant. Tout comme les deux personnes dont le g\u00e8ne PACS1 [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":38140,"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\/38640"}],"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=38640"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38640\/revisions"}],"predecessor-version":[{"id":38645,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38640\/revisions\/38645"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38140"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38640"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}