{"id":5936,"date":"2019-09-18T15:07:16","date_gmt":"2019-09-18T19:07:16","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=5936"},"modified":"2019-09-18T15:07:50","modified_gmt":"2019-09-18T19:07:50","slug":"de-novo-frameshift-mutation-in-asxl3","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/asxl3-2\/de-novo-frameshift-mutation-in-asxl3\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>De novo frameshift mutation in <em>ASXL3<\/em> in a patient with global developmental delay, microcephaly, and craniofacial anomalies<\/strong><\/h2>\n<p>Original research article by D.L. Dinwiddie <em>et al.<\/em> (2013).<\/p>\n<p>Read the abstract <a href=\"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/1755-8794-6-32\">here<\/a>.<\/p>\n<p>This case report describes a 6-year-old girl who has a change in <em>ASXL3<\/em> identified through whole-exome sequencing. Features believed to be associated with her <em>ASXL3<\/em> change were speech delay and developmental delays.<\/p>\n<p>The researchers propose that changes in the <em>ASXL3<\/em> gene are the cause of a newly recognized syndrome characterized by severe global developmental delay, being shorter than average (short stature), a smaller-than-average head size (microcephaly), and differences in facial features.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies Original research article by D.L. Dinwiddie et al. (2013). Read the abstract here. This case report describes a 6-year-old girl who has a change in ASXL3 identified through whole-exome sequencing. Features believed to be associated with her ASXL3 [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":414,"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\/wp-json\/wp\/v2\/pages\/5936"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=5936"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5936\/revisions"}],"predecessor-version":[{"id":5937,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5936\/revisions\/5937"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/414"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=5936"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}