{"id":38222,"date":"2025-07-04T14:01:10","date_gmt":"2025-07-04T14:01:10","guid":{"rendered":"https:\/\/www.europesays.com\/us\/38222\/"},"modified":"2025-07-04T14:01:10","modified_gmt":"2025-07-04T14:01:10","slug":"a-homozygous-frameshift-variant-in-the-cilk1-gene-causes-cranioectodermal-dysplasia","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/38222\/","title":{"rendered":"A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia"},"content":{"rendered":"
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    Limerick A, McCabe EA, Turner JS, Kuang KW, Brautigan DL, Hao Y, et al. An epilepsy-associated CILK1 variant compromises KATNIP regulation and impairs primary cilia and hedgehog signaling. Cells. 2024;13.15:1258.<\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…\n","protected":false},"author":3,"featured_media":38223,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[18531,15576,15579,23455,18532,834,815,29197,15577,30876,30877,159,67,132,68],"class_list":{"0":"post-38222","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioinformatics","9":"tag-biomedicine","10":"tag-cytogenetics","11":"tag-disease-genetics","12":"tag-gene-expression","13":"tag-general","14":"tag-genetics","15":"tag-genetics-research","16":"tag-human-genetics","17":"tag-liver-fibrosis","18":"tag-paediatric-kidney-disease","19":"tag-science","20":"tag-united-states","21":"tag-unitedstates","22":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/114795333754574894","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/38222","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=38222"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/38222\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/38223"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=38222"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=38222"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=38222"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}