{"id":12876,"date":"2023-03-23T10:18:22","date_gmt":"2023-03-23T09:18:22","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12876"},"modified":"2023-03-23T10:18:22","modified_gmt":"2023-03-23T09:18:22","slug":"biallelic-truncating-variants-in-filip1-identified-as-cause-of-novel-arthrogryposis-phenotype-with-microcephaly","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/biallelic-truncating-variants-in-filip1-identified-as-cause-of-novel-arthrogryposis-phenotype-with-microcephaly\/","title":{"rendered":"Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2023\/03\/visual-hompage-filip1-en.png&#8221; image_size=&#8221;full&#8221;][\/vc_column][\/vc_row][vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1679563016769{margin-bottom: 0px !important;}&#8221;]<strong>Homozygous loss-of-function variants in FILIP1 cause autosomal recessive <em>arthrogryposis multiplex congenita<\/em> with microcephaly<\/strong><br \/>\nSchnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altm\u00fcller J, N\u00fcrnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G<br \/>\n<em>Hum Genet<\/em>. 2023 Mar 21. doi: 10.1007\/s00439-023-02528-2. Epub ahead of print.<\/p>\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36943452&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n[\/vc_column_text][\/vc_column][\/vc_row]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][mk_image src=&#8221;https:\/\/www.humangenetik-umg.de\/wp-content\/uploads\/2023\/03\/visual-hompage-filip1-en.png&#8221; image_size=&#8221;full&#8221;][\/vc_column][\/vc_row][vc_row][vc_column][mk_padding_divider size=&#8221;30&#8243;][\/vc_column][\/vc_row][vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1679563016769{margin-bottom: 0px !important;}&#8221;]Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly Schnabel F, Schuler E, Al-Maawali A, Chaurasia A, Syrbe S, Al-Kindi A, Bhavani GS, Shukla A, Altm\u00fcller J, N\u00fcrnberg P, Banka S, Girisha KM, Li Y, Wollnik B, Yigit G Hum Genet. 2023 Mar 21. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[51,52],"tags":[],"class_list":["post-12876","post","type-post","status-publish","format-standard","hentry","category-news","category-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/biallelic-truncating-variants-in-filip1-identified-as-cause-of-novel-arthrogryposis-phenotype-with-microcephaly\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic truncating variants in FILIP1 identified as cause of novel arthrogryposis phenotype with microcephaly - 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