{"id":12055,"date":"2021-07-13T08:11:30","date_gmt":"2021-07-13T06:11:30","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12055"},"modified":"2021-07-13T08:11:30","modified_gmt":"2021-07-13T06:11:30","slug":"variants-in-clustered-protocadherin-pcdhgc4-identified-as-genetic-cause-of-novel-neurodevelopmental-disorder","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/variants-in-clustered-protocadherin-pcdhgc4-identified-as-genetic-cause-of-novel-neurodevelopmental-disorder\/","title":{"rendered":"Variants in clustered protocadherin PCDHGC4 identified as genetic cause of novel neurodevelopmental disorder"},"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\/2021\/07\/news-pcdhgc4.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_1626156917061{margin-bottom: 0px !important;}&#8221;]<strong>Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies<\/strong><br \/>\nIqbal M, Maroofian R, \u00c7avdarl\u0131 B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altm\u00fcller J, Motameny S, H\u00f6hne W, Houlden H, N\u00fcrnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G.<br \/>\n<em>Genet Med.<\/em> 2021 Jul 9. doi: 10.1038\/s41436-021-01260-4. 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\/34244665&#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;][\/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\/2021\/07\/news-pcdhgc4.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_1626156917061{margin-bottom: 0px !important;}&#8221;]Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies Iqbal M, Maroofian R, \u00c7avdarl\u0131 B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[51,52],"tags":[],"class_list":["post-12055","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 - 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