{"id":339,"date":"2012-07-11T23:46:34","date_gmt":"2012-07-11T23:46:34","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=339"},"modified":"2012-07-11T23:46:34","modified_gmt":"2012-07-11T23:46:34","slug":"genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/07\/11\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\/","title":{"rendered":"Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog"},"content":{"rendered":"<p>Holoprosencephaly is a common human brain malformation; there are many different known causes.\u00a0 <em>Sonic Hedgehog<\/em> was the first gene in which mutations were found to cause holoprosencephaly .\u00a0 Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.\u00a0 However, some people have only subtle facial differences.\u00a0 We examined almost all known individuals (almost 400 total) with <em>Sonic Hedgehog <\/em>mutations, and describe the clinical manifestations.\u00a0 We found that certain types of <em>Sonic Hedgehog<\/em> mutations tend to cause severe disease, while other types of mutations are more likely to cause milder findings. (By Maximilian Muenke, M.D., <a href=\"http:\/\/jmg.bmj.com\/content\/49\/7\/473\">http:\/\/jmg.bmj.com\/content\/49\/7\/473<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Holoprosencephaly is a common human brain malformation; there are many different known causes.\u00a0 Sonic Hedgehog was the first gene in which mutations were found to cause holoprosencephaly .\u00a0 Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.\u00a0 However, some people have only subtle facial [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/07\/11\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-339","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/339","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=339"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/339\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=339"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=339"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=339"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}