{"id":769,"date":"2015-06-16T18:38:02","date_gmt":"2015-06-16T18:38:02","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=769"},"modified":"2026-02-25T01:03:53","modified_gmt":"2026-02-25T01:03:53","slug":"exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/06\/16\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\/","title":{"rendered":"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez)"},"content":{"rendered":"<p>Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. The patient\u00b4s phenotype is very important in order to go deeper into the physiopathology of the disease. The clinical description of the patients could give us some clues about the pathways that are involved in the disease. Besides,\u00a0 the more clinical information we have, the more accurate the diagnosis will be, also highlighting non-common BBS features. This approach will be interesting for considering groups of patients candidate for different therapeutical options. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/16\/jmedgenet-2015-103099\">http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/16\/jmedgenet-2015-103099<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. The patient\u00b4s phenotype is very important in order to go deeper into the physiopathology of the disease. The clinical description of the patients could give us some clues about the pathways that are involved in the disease. Besides,\u00a0 the more [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/06\/16\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\/\">Read More&#8230;<\/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-769","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez) - 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\/2015\/06\/16\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. The patient\u00b4s phenotype is very important in order to go deeper into the physiopathology of the disease. The clinical description of the patients could give us some clues about the pathways that are involved in the disease. Besides,\u00a0 the more [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/06\/16\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-06-16T18:38:02+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T01:03:53+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\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez)\",\"datePublished\":\"2015-06-16T18:38:02+00:00\",\"dateModified\":\"2026-02-25T01:03:53+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/\"},\"wordCount\":109,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/06\\\/16\\\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\\\/\",\"name\":\"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez) - 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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":"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez) - 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\/2015\/06\/16\/exploring-genotype-phenotype-relationships-in-bardet-biedl-syndrome-families\/","og_locale":"en_US","og_type":"article","og_title":"Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families (Contributed by Dr. Diana Valverde P\u00e9rez) - JMG Contact blog","og_description":"Bardet Biedl syndrome (BBS) is a recessive rare disorder included in the ciliopathies disease family. 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