{"id":1986,"date":"2024-12-18T10:01:21","date_gmt":"2024-12-18T15:01:21","guid":{"rendered":"https:\/\/www.geneticalatam.org\/?p=1986"},"modified":"2025-06-08T23:05:19","modified_gmt":"2025-06-09T04:05:19","slug":"art-2381-en-de-novo-variant-in-the-col1a1-gene-associated-with-orphan-genetic-disease-osteogenesis-imperfecta-type-i","status":"publish","type":"post","link":"https:\/\/www.geneticalatam.org\/index.php\/2024\/12\/18\/art-2381-en-de-novo-variant-in-the-col1a1-gene-associated-with-orphan-genetic-disease-osteogenesis-imperfecta-type-i\/","title":{"rendered":"De novo variant in the COL1A1 gene associated with orphan genetic disease: Osteogenesis Imperfecta type I"},"content":{"rendered":"\n<p>[Variante de novo en el gen COL1A1 asociado a enfermedad gen\u00e9tica hu\u00e9rfana: Osteog\u00e9nesis Imperfecta tipo I]<\/p>\n\n\n\n<p>Jhonatan Alzate Valencia<sup>1,2,3<\/sup>, Lina-Johanna Moreno-Giraldo<sup>4,5,6<\/sup><a href=\"https:\/\/orcid.org\/0000-0002-2182-3757\"><\/a><\/p>\n\n\n\n<p><strong>1.<\/strong>&nbsp;Clinical Postgraduate Program in Pediatrics, Faculty of Health Sciences, Universidad Libre Cali, Colombia;&nbsp;<strong>2.<\/strong>&nbsp;Research Group in Pediatrics (GRINPED);&nbsp;<strong>3.<\/strong>&nbsp;Neurogenetics and Metabolic Diseases Research Line;&nbsp;<strong>4.<\/strong>&nbsp;Faculty of Health Sciences, Universidad Libre Cali, Colombia;&nbsp;<strong>5.<\/strong>&nbsp;Pediatrics Research Group (GRINPED);&nbsp;<strong>6.<\/strong>&nbsp;Neuro Genetics and Metabolic Diseases Research Line;<\/p>\n\n\n\n<p>Keywords++<\/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>Published: 2024-11-25<\/p>\n\n\n\n","protected":false},"excerpt":{"rendered":"<p>[Variante de novo en el gen COL1A1 asociado a enfermedad gen\u00e9tica hu\u00e9rfana: Osteog\u00e9nesis Imperfecta tipo I] Jhonatan Alzate Valencia1,2,3, Lina-Johanna Moreno-Giraldo4,5,6 1.&nbsp;Clinical Postgraduate Program in Pediatrics, Faculty of Health Sciences,&hellip; <\/p>\n","protected":false},"author":1,"featured_media":1985,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[63,127],"tags":[],"post_folder":[],"class_list":["post-1986","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-featured-articles","category-journal"],"_links":{"self":[{"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1986","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=1986"}],"version-history":[{"count":3,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1986\/revisions"}],"predecessor-version":[{"id":2130,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/posts\/1986\/revisions\/2130"}],"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=1986"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/categories?post=1986"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/tags?post=1986"},{"taxonomy":"post_folder","embeddable":true,"href":"https:\/\/www.geneticalatam.org\/index.php\/wp-json\/wp\/v2\/post_folder?post=1986"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}