{"id":38605,"date":"2019-09-27T08:47:55","date_gmt":"2019-09-27T12:47:55","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38605-2\/"},"modified":"2024-01-29T09:58:20","modified_gmt":"2024-01-29T14:58:20","slug":"38605-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38605-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>D\u00e9limitation clinique du syndrome li\u00e9 au PACS1 &#8211; Rapport sur 19 patients<\/strong><\/h2>\n<p>Article de recherche original de J.H. Schuurs-Hoeijmakers <em>et al. <\/em>(2016).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26842493\">ici<\/a>.<\/p>\n<p>Cet article porte principalement sur 16 personnes ayant une d\u00e9ficience intellectuelle et un changement de PACS1 identifi\u00e9. Ces 16 personnes et leurs parents avaient b\u00e9n\u00e9fici\u00e9 d&#8217;un s\u00e9quen\u00e7age de l&#8217;exome entier, qui a r\u00e9v\u00e9l\u00e9 que les 16 personnes pr\u00e9sentaient la m\u00eame modification de novo du g\u00e8ne PACS1 que les trois personnes pr\u00e9c\u00e9demment mentionn\u00e9es dans la litt\u00e9rature. En outre, ils pr\u00e9sentaient une d\u00e9ficience intellectuelle, des traits faciaux particuliers et d&#8217;autres caract\u00e9ristiques physiques atypiques. Avec 19 personnes pr\u00e9sentant le m\u00eame diagnostic g\u00e9n\u00e9tique et les m\u00eames caract\u00e9ristiques physiques, un syndrome associ\u00e9 \u00e0 PACS1 peut d\u00e9sormais \u00eatre reconnu.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>D\u00e9limitation clinique du syndrome li\u00e9 au PACS1 &#8211; Rapport sur 19 patients Article de recherche original de J.H. Schuurs-Hoeijmakers et al. (2016). Lire le r\u00e9sum\u00e9 ici. Cet article porte principalement sur 16 personnes ayant une d\u00e9ficience intellectuelle et un changement de PACS1 identifi\u00e9. Ces 16 personnes et leurs parents avaient b\u00e9n\u00e9fici\u00e9 d&#8217;un s\u00e9quen\u00e7age de l&#8217;exome [&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\/38605"}],"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=38605"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38605\/revisions"}],"predecessor-version":[{"id":38608,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38605\/revisions\/38608"}],"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=38605"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}