{"id":3514,"date":"2017-07-01T14:38:31","date_gmt":"2017-07-01T14:38:31","guid":{"rendered":"http:\/\/www.cutislaxa.org\/2017\/07\/01\/new-mutations\/"},"modified":"2018-01-12T13:10:16","modified_gmt":"2018-01-12T13:10:16","slug":"new-mutations","status":"publish","type":"post","link":"https:\/\/www.cutislaxa.org\/fr\/new-mutations\/","title":{"rendered":"12 mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 identifi\u00e9es"},"content":{"rendered":"<p>Aujourd\u2019hui, ce sont donc 12 mutations diff\u00e9rentes qui ont \u00e9t\u00e9 identifi\u00e9es et entrainent une Cutis Laxa. C\u2019est pourquoi la classification de la Cutis Laxa sera prochainement revue.<\/p>\n<div class=\"O\">\n<ul>\n<li>Elastine (<strong>ELN<\/strong>) (2 mutations) &#8211; ADCL<\/li>\n<li>Fibuline5 (<strong>FBLN5<\/strong>) &#8211; ARCL1A<\/li>\n<li>Fibuline4 (<strong>FBLN4<\/strong>) &#8211; ARCL1B<\/li>\n<li><strong>LTBP4<\/strong> &#8211; ARCL1C<\/li>\n<li><strong>ATP6V0A2<\/strong> &#8211; ARCL2A<\/li>\n<li><strong>PYCR1<\/strong> &#8211; ARCL2B<\/li>\n<li><strong>ATP6V1E1<\/strong> \/ <strong>ATP6V1A<\/strong> &#8211; ARCL2<span style=\"color: #000066;\">C<\/span><\/li>\n<li><strong>ALDH18A1<\/strong> &#8211; ARCL3 (De Barsy Syndrom)<\/li>\n<li><strong>SCYL1BP1<\/strong> (G\u00e9roderma Osteodysplastica)<\/li>\n<li><strong>ATP7A<\/strong> (Occipital Horn Syndrom)<\/li>\n<li><strong>RIN2<\/strong> (MACS Syndrom)<\/li>\n<\/ul>\n<\/div>\n<p><span style=\"border-top-left-radius: 2px; border-top-right-radius: 2px; border-bottom-right-radius: 2px; border-bottom-left-radius: 2px; text-indent: 20px; width: auto; padding: 0px 4px 0px 0px; text-align: center; font-style: normal; font-variant-caps: normal; font-weight: bold; font-stretch: normal; font-size: 11px; line-height: 20px; font-family: 'Helvetica Neue', Helvetica, sans-serif; color: #ffffff; background-image: url(data:image\/svg+xml; base64,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); background-size: 14px 14px; background-color: #bd081c; position: absolute; opacity: 1; z-index: 8675309; display: none; cursor: pointer; border: none; -webkit-font-smoothing: antialiased; background-position: 3px 50%; background-repeat: no-repeat no-repeat;\">Bewaren<\/span><span style=\"border-top-left-radius: 2px; border-top-right-radius: 2px; border-bottom-right-radius: 2px; border-bottom-left-radius: 2px; text-indent: 20px; width: auto; padding: 0px 4px 0px 0px; text-align: center; font-style: normal; font-variant-caps: normal; font-weight: bold; font-stretch: normal; font-size: 11px; line-height: 20px; font-family: 'Helvetica Neue', Helvetica, sans-serif; color: #ffffff; background-image: url(data:image\/svg+xml; base64,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); background-size: 14px 14px; background-color: #bd081c; position: absolute; opacity: 1; z-index: 8675309; display: none; cursor: pointer; border: none; -webkit-font-smoothing: antialiased; background-position: 3px 50%; background-repeat: no-repeat no-repeat;\">Bewaren<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Aujourd\u2019hui, ce sont donc 12 mutations diff\u00e9rentes qui ont \u00e9t\u00e9 identifi\u00e9es et entrainent une Cutis Laxa. C\u2019est pourquoi la classification de la Cutis Laxa sera prochainement revue. Elastine (ELN) (2 mutations) &#8211; ADCL Fibuline5 (FBLN5) &#8211; ARCL1A Fibuline4 (FBLN4) &#8211; ARCL1B LTBP4 &#8211; ARCL1C ATP6V0A2 &#8211; ARCL2A PYCR1 &#8211; ARCL2B ATP6V1E1 \/ ATP6V1A &#8211; ARCL2C [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":2317,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[59],"tags":[],"class_list":["post-3514","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-number-mutations-fr"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>12 mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 identifi\u00e9es - CUTIS LAXA INTERNATIONALE<\/title>\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.cutislaxa.org\/new-mutations\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"12 mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 identifi\u00e9es - CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"og:description\" content=\"Aujourd\u2019hui, ce sont donc 12 mutations diff\u00e9rentes qui ont \u00e9t\u00e9 identifi\u00e9es et entrainent une Cutis Laxa. C\u2019est pourquoi la classification de la Cutis Laxa sera prochainement revue. Elastine (ELN) (2 mutations) &#8211; ADCL Fibuline5 (FBLN5) &#8211; ARCL1A Fibuline4 (FBLN4) &#8211; ARCL1B LTBP4 &#8211; ARCL1C ATP6V0A2 &#8211; ARCL2A PYCR1 &#8211; ARCL2B ATP6V1E1 \/ ATP6V1A &#8211; ARCL2C [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.cutislaxa.org\/new-mutations\/\" \/>\n<meta property=\"og:site_name\" content=\"CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CutisLaxaAssociation\/\" \/>\n<meta property=\"article:published_time\" content=\"2017-07-01T14:38:31+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2018-01-12T13:10:16+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/07\/gene.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"300\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"sonja\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"sonja\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations\/\"},\"author\":{\"name\":\"sonja\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/person\/460376d3f7cad57f8aa567969389dfce\"},\"headline\":\"12 mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 identifi\u00e9es\",\"datePublished\":\"2017-07-01T14:38:31+00:00\",\"dateModified\":\"2018-01-12T13:10:16+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations\/\"},\"wordCount\":98,\"publisher\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#organization\"},\"articleSection\":[\"Mutations\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations\/\",\"url\":\"https:\/\/www.cutislaxa.org\/new-mutations\/\",\"name\":\"12 mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 identifi\u00e9es - 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C\u2019est pourquoi la classification de la Cutis Laxa sera prochainement revue. 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