{"id":1983,"date":"2024-12-18T10:00:21","date_gmt":"2024-12-18T15:00:21","guid":{"rendered":"https:\/\/www.geneticalatam.org\/?p=1983"},"modified":"2025-06-08T23:09:10","modified_gmt":"2025-06-09T04:09:10","slug":"art-2381-es-variante-de-novo-en-el-gen-col1a1-asociado-a-enfermedad-genetica-huerfana-osteogenesis-imperfecta-tipo-i","status":"publish","type":"post","link":"https:\/\/www.geneticalatam.org\/index.php\/es\/2024\/12\/18\/art-2381-es-variante-de-novo-en-el-gen-col1a1-asociado-a-enfermedad-genetica-huerfana-osteogenesis-imperfecta-tipo-i\/","title":{"rendered":"Variante de novo en el gen COL1A1 asociado a enfermedad gen\u00e9tica hu\u00e9rfana: Osteog\u00e9nesis Imperfecta tipo I"},"content":{"rendered":"\n<p>De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I<\/p>\n\n\n\n<p>Jhonatan Alzate Valencia<sup>1,2,3<\/sup>, Lina-Johanna Moreno-Giraldo<sup>2,3,4<\/sup><a href=\"https:\/\/orcid.org\/0000-0002-2182-3757\"><\/a><\/p>\n\n\n\n<p><strong>1.<\/strong>&nbsp;Programa de Postgrados Cl\u00ednicos en Pediatr\u00eda, Facultad de Ciencias de la Salud, Universidad Libre Cali, Colombia;&nbsp;<strong>2.<\/strong>&nbsp;Grupo de Investigaci\u00f3n en Pediatr\u00eda (GRINPED);&nbsp;<strong>3.<\/strong>&nbsp;L\u00ednea de Investigaci\u00f3n Neuro Gen\u00e9tica y Enfermedades Metab\u00f3licas;&nbsp;<strong>4.<\/strong>&nbsp;Facultad de Ciencias de la Salud, Universidad Libre Cali, Colombia;<\/p>\n\n\n\n<p>Palabras Clave ++<\/p>\n\n\n\n<p>DOI:&nbsp;<a href=\"https:\/\/doi.org\/10.37980\/im.journal.ggcl.20242363\">10.37980\/im.journal.ggcl.20242363<\/a><\/p>\n\n\n\n<p>Publicado: 2024-11-25<\/p>\n\n\n\n","protected":false},"excerpt":{"rendered":"<p>De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I Jhonatan Alzate Valencia1,2,3, Lina-Johanna Moreno-Giraldo2,3,4 1.&nbsp;Programa de Postgrados Cl\u00ednicos en Pediatr\u00eda, Facultad de Ciencias&hellip; <\/p>\n","protected":false},"author":1,"featured_media":1985,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[13,4],"tags":[],"post_folder":[],"class_list":["post-1983","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articulos-destacados","category-revista"],"_links":{"self":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1983","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/comments?post=1983"}],"version-history":[{"count":3,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1983\/revisions"}],"predecessor-version":[{"id":2131,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1983\/revisions\/2131"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/media\/1985"}],"wp:attachment":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/media?parent=1983"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/categories?post=1983"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/tags?post=1983"},{"taxonomy":"post_folder","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/post_folder?post=1983"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}