{"id":997,"date":"2017-06-08T18:11:28","date_gmt":"2017-06-08T18:11:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=997"},"modified":"2026-02-24T21:05:53","modified_gmt":"2026-02-24T21:05:53","slug":"first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/","title":{"rendered":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith)"},"content":{"rendered":"

Gorlin syndrome (GS) is a genetic disease that causes affected people to develop skin tumours and puts them at risk of other tumours as well as other abnormal features of skin and bone. Most cases of GS are caused by gene changes in the PTCH1<\/em> gene, while fewer cases are caused by changes in the related gene, SUFU<\/em>. In other cases it is unknown what gene change is causing the disease. In our study, we have found that several features of GS may be explained by the specific type of gene change causing their disease. (http:\/\/jmg.bmj.com\/content\/early\/2017\/06\/08\/jmedgenet-2017-104669<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Gorlin syndrome (GS) is a genetic disease that causes affected people to develop skin tumours and puts them at risk of other tumours as well as other abnormal features of skin and bone. Most cases of GS are caused by gene changes in the PTCH1 gene, while fewer cases are caused by changes in the […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-997","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nFirst evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Gorlin syndrome (GS) is a genetic disease that causes affected people to develop skin tumours and puts them at risk of other tumours as well as other abnormal features of skin and bone. Most cases of GS are caused by gene changes in the PTCH1 gene, while fewer cases are caused by changes in the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-06-08T18:11:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:05:53+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith)\",\"datePublished\":\"2017-06-08T18:11:28+00:00\",\"dateModified\":\"2026-02-24T21:05:53+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/\"},\"wordCount\":117,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/\",\"name\":\"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2017-06-08T18:11:28+00:00\",\"dateModified\":\"2026-02-24T21:05:53+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/06\\\/08\\\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog","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":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog","og_description":"Gorlin syndrome (GS) is a genetic disease that causes affected people to develop skin tumours and puts them at risk of other tumours as well as other abnormal features of skin and bone. Most cases of GS are caused by gene changes in the PTCH1 gene, while fewer cases are caused by changes in the [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2017-06-08T18:11:28+00:00","article_modified_time":"2026-02-24T21:05:53+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith)","datePublished":"2017-06-08T18:11:28+00:00","dateModified":"2026-02-24T21:05:53+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/"},"wordCount":117,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/","name":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2017-06-08T18:11:28+00:00","dateModified":"2026-02-24T21:05:53+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/06\/08\/first-evidence-of-genotype-phenotype-correlations-in-gorlin-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"First evidence of genotype-phenotype correlations in Gorlin syndrome (Contributed by Dr. Miriam J. Smith)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/997","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=997"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/997\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=997"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=997"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=997"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}