{"id":16307,"date":"2020-10-01T15:17:23","date_gmt":"2020-10-01T13:17:23","guid":{"rendered":"https:\/\/genomik-tuebingen.de\/?p=16307"},"modified":"2025-03-10T09:12:49","modified_gmt":"2025-03-10T08:12:49","slug":"cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development","status":"publish","type":"post","link":"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/","title":{"rendered":"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development."},"content":{"rendered":"<p><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-1\" style=\"--awb-font-size:24px;\"><p style=\"text-align: justify;\">Hanna Mandel<sup>1<\/sup>, Nehama Cohen Kfir<sup>1,<\/sup><sup>2<\/sup>, Ayalla Fedida<sup>1,<\/sup><sup>2<\/sup>, Efrat Shuster Biton<sup>1<\/sup>, Marwan Odeh<sup>3<\/sup>, Limor Kalfon<sup>1<\/sup>, Shani Ben Harouch<sup>1<\/sup>, Vered Sheffer Fleischer<sup>4<\/sup>, Yoav Hoffman<sup>5<\/sup>, Yael Goldberg<sup>6<\/sup>, April Dinwiddie<sup>7<\/sup>, Elena Dumin<sup>8<\/sup>, Ayelet Eran<sup>9<\/sup>, Liat Apel-Sarid <sup>10<\/sup>, Dov Tiosano<sup>11<\/sup>, Tzipora C Falik-Zaccai<sup>1,<\/sup><sup>2<\/sup>.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-2 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-1 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-title title fusion-title-1 fusion-sep-none fusion-title-text fusion-title-size-two\" style=\"--awb-text-color:var(--awb-custom_color_1);--awb-margin-top-small:10px;--awb-margin-right-small:0px;--awb-margin-bottom-small:10px;--awb-margin-left-small:0px;\"><h2 class=\"fusion-title-heading title-heading-left fusion-responsive-typography-calculated\" style=\"margin:0;text-transform:none;--fontSize:36;line-height:var(--awb-typography1-line-height);\">Abstract<\/h2><\/div><\/div><\/div><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-2 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-text fusion-text-2\"><p style=\"text-align: justify;\">COG6-congenital disorder of glycosylation (COG6-CDG) is caused by biallelic mutations in COG6. To-date, 12 variants causing COG6-CDG in less than 20 patients have been reported. Using whole exome sequencing we identified two siblings with a novel homozygous deletion of 26 bp in COG6, creating a splicing variant (c.518_540 + 3del) and a shift in the reading frame. The phenotype of COG6-CDG includes growth and developmental retardation, microcephaly, liver and gastrointestinal disease, hypohydrosis and recurrent infections. We report two patients with novel phenotypic features including bowel malrotation and ambiguous genitalia, directing attention to the role of glycoprotein metabolism in the causation of disorders of sex development (DSD). Searching the glycomic literature, we identified 14 CDGs including males with DSD, a feature not previously accentuated. This study broadens the genetic and phenotypic spectrum of COG6-CDG and calls for increasing awareness to the central role of glycosylation processes in development of human sex and genitalia.<\/p>\n<\/div><\/div><\/div><\/div><\/div><div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-3 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--link_hover_color: var(--awb-color6);--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-padding-top:60px;--awb-padding-bottom:60px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1248px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-3 fusion_builder_column_1_1 1_1 fusion-flex-column\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:20px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic vertical-tabs icon-position-left mobile-mode-carousel\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-title-padding-top:10px;--awb-title-padding-right:50px;--awb-title-padding-bottom:10px;--awb-title-padding-left:50px;--awb-alignment:start;--awb-inactive-color:var(--awb-color7);--awb-title-text-color:var(--awb-color5);--awb-title-active-text-color:var(--awb-custom_color_1);--awb-background-color:var(--awb-color5);--awb-border-color:rgba(0,0,0,0.05);--awb-active-border-color:var(--awb-custom_color_1);\"><div class=\"nav\"><ul class=\"nav-tabs\" role=\"tablist\" aria-orientation=\"vertical\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-4d6150ba7d1a2ecd262\" aria-selected=\"true\" tabindex=\"0\" id=\"fusion-tab-4d6150ba7d1a2ecd262\" href=\"#tab-4d6150ba7d1a2ecd262\"><h3 class=\"fusion-tab-heading\">Referenzen<\/h3><\/a><\/li><li  role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-65cba6f752d74fff6f6\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-65cba6f752d74fff6f6\" href=\"#tab-65cba6f752d74fff6f6\"><h3 class=\"fusion-tab-heading\">Autorinnen\/Autoren<\/h3><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-4d6150ba7d1a2ecd262\" id=\"tab-4d6150ba7d1a2ecd262\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32683677\/\" target=\"_blank\" rel=\"noopener\">Ver\u00f6ffentlichung auf NCBI anschauen<\/a><\/p>\n<p><a href=\"\/de\/diagnostik\/seltene-erkrankungen\/epilepsie-und-hirnentwicklungsstoerungen\/\" target=\"_blank\" rel=\"noopener\"><span class=\"avia_iconbox_title\">Zu unserem Panel f\u00fcr Epilepsie und Hirnentwicklungsst\u00f6rungen<\/span><\/a><\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-65cba6f752d74fff6f6\" id=\"tab-65cba6f752d74fff6f6\">\n<ol>\n<li>Institute of Human Genetics, Galilee Medical Center, Nahariya, Israel.<\/li>\n<li>Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel.<\/li>\n<li>Ultra-Sound Unit, Galilee Medical Center, Nahariya, Israel.<\/li>\n<li>NICU, Galilee Medical Center, Nahariya, Israel.<\/li>\n<li>PICU, Galilee Medical Center, Nahariya, Israel.<\/li>\n<li>Ultrasound Unit, Carmel Medical Center, Haifa, Israel.<\/li>\n<li>Center for Genomics and Transcriptomics (CeGaT) GmbH and Practice for Human Genetics, Paul-Ehrlich-Stra\u00dfe 23, 72076, T\u00fcbingen, Germany.<\/li>\n<li>Clinical Biochemistry Laboratory, Rambam Health Care Campus, Haifa, Israel.<\/li>\n<li>Neuroradiology Unit, Radiology Department, Rambam Health Care Campus, Haifa, Israel.<\/li>\n<li>Department of Pathology, Galilee Medical Center, Nahariya, Israel.<\/li>\n<li>Pediatric Endocrinology Department, Rambam Health Care Campus, Haifa, Israel.<\/li>\n<\/ol>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":18,"featured_media":54928,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[53],"tags":[244],"class_list":["post-16307","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-veroeffentlichungen","tag-epilepsie-und-hirnentwicklungsstoerungen"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.<\/title>\n<meta name=\"description\" content=\"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.\" \/>\n<meta property=\"og:description\" content=\"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\" \/>\n<meta property=\"og:url\" content=\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\" \/>\n<meta property=\"og:site_name\" content=\"CeGaT GmbH\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CeGaT.GmbH\/?locale=de_DE\" \/>\n<meta property=\"article:published_time\" content=\"2020-10-01T13:17:23+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2025-03-10T08:12:49+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1500\" \/>\n\t<meta property=\"og:image:height\" content=\"800\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Team CeGaT\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\"},\"author\":{\"name\":\"Team CeGaT\",\"@id\":\"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777\"},\"headline\":\"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.\",\"datePublished\":\"2020-10-01T13:17:23+00:00\",\"dateModified\":\"2025-03-10T08:12:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\"},\"wordCount\":2341,\"image\":{\"@id\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg\",\"keywords\":[\"Epilepsie und Hirnentwicklungsst\u00f6rungen\"],\"articleSection\":[\"Ver\u00f6ffentlichungen\"],\"inLanguage\":\"de\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\",\"url\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\",\"name\":\"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.\",\"isPartOf\":{\"@id\":\"https:\/\/cegat.com\/de\/#website\"},\"primaryImageOfPage\":{\"@id\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage\"},\"image\":{\"@id\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg\",\"datePublished\":\"2020-10-01T13:17:23+00:00\",\"dateModified\":\"2025-03-10T08:12:49+00:00\",\"author\":{\"@id\":\"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777\"},\"description\":\"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.\",\"inLanguage\":\"de\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"de\",\"@id\":\"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage\",\"url\":\"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg\",\"contentUrl\":\"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg\",\"width\":1500,\"height\":800,\"caption\":\"Keyvisual zu Neuigkeiten und Ver\u00f6ffentlichungen\"},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/cegat.com\/de\/#website\",\"url\":\"https:\/\/cegat.com\/de\/\",\"name\":\"CeGaT GmbH\",\"description\":\"Genetic Insights You Can Trust\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/cegat.com\/de\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"de\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777\",\"name\":\"Team CeGaT\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.","description":"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/","og_locale":"de_DE","og_type":"article","og_title":"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.","og_description":"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.","og_url":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/","og_site_name":"CeGaT GmbH","article_publisher":"https:\/\/www.facebook.com\/CeGaT.GmbH\/?locale=de_DE","article_published_time":"2020-10-01T13:17:23+00:00","article_modified_time":"2025-03-10T08:12:49+00:00","og_image":[{"width":1500,"height":800,"url":"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg","type":"image\/jpeg"}],"author":"Team CeGaT","twitter_card":"summary_large_image","schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#article","isPartOf":{"@id":"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/"},"author":{"name":"Team CeGaT","@id":"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777"},"headline":"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.","datePublished":"2020-10-01T13:17:23+00:00","dateModified":"2025-03-10T08:12:49+00:00","mainEntityOfPage":{"@id":"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/"},"wordCount":2341,"image":{"@id":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage"},"thumbnailUrl":"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg","keywords":["Epilepsie und Hirnentwicklungsst\u00f6rungen"],"articleSection":["Ver\u00f6ffentlichungen"],"inLanguage":"de"},{"@type":"WebPage","@id":"https:\/\/cegat.com\/de\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/","url":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/","name":"COG6-CDG: Expanding the Phenotype with emphasis on glycosylation defects involved in the causation of Male Disorders of Sex Development.","isPartOf":{"@id":"https:\/\/cegat.com\/de\/#website"},"primaryImageOfPage":{"@id":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage"},"image":{"@id":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage"},"thumbnailUrl":"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg","datePublished":"2020-10-01T13:17:23+00:00","dateModified":"2025-03-10T08:12:49+00:00","author":{"@id":"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777"},"description":"Diese sowie noch weitere Publikationen in dem Bereich Panel-Diagnostik, an denen wir mitgewirkt haben, k\u00f6nnen Sie auf unserer Website finden.","inLanguage":"de","potentialAction":[{"@type":"ReadAction","target":["\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/"]}]},{"@type":"ImageObject","inLanguage":"de","@id":"\/cog6-cdg-expanding-the-phenotype-with-emphasis-on-glycosylation-defects-involved-in-the-causation-of-male-disorders-of-sex-development\/#primaryimage","url":"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg","contentUrl":"https:\/\/cegat.com\/wp-content\/uploads\/2022\/11\/CeGaT_KV_Neuigkeiten_Veroeffentlichungen.jpg","width":1500,"height":800,"caption":"Keyvisual zu Neuigkeiten und Ver\u00f6ffentlichungen"},{"@type":"WebSite","@id":"https:\/\/cegat.com\/de\/#website","url":"https:\/\/cegat.com\/de\/","name":"CeGaT GmbH","description":"Genetic Insights You Can Trust","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/cegat.com\/de\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"de"},{"@type":"Person","@id":"https:\/\/cegat.com\/de\/#\/schema\/person\/e3657a2842bf61167c8ef2011a85a777","name":"Team CeGaT"}]}},"_links":{"self":[{"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/posts\/16307","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/users\/18"}],"replies":[{"embeddable":true,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/comments?post=16307"}],"version-history":[{"count":0,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/posts\/16307\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/media\/54928"}],"wp:attachment":[{"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/media?parent=16307"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/categories?post=16307"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cegat.com\/de\/wp-json\/wp\/v2\/tags?post=16307"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}