{"id":352,"date":"2012-08-13T14:30:13","date_gmt":"2012-08-13T14:30:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=352"},"modified":"2026-02-25T20:34:06","modified_gmt":"2026-02-25T20:34:06","slug":"neurofibromatosis-type-1-from-genotype-to-phenotype","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/08\/13\/neurofibromatosis-type-1-from-genotype-to-phenotype\/","title":{"rendered":"Neurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant)"},"content":{"rendered":"

Although neurofibromatosis 1 (NF1) is a common genetic disorder, its expression is highly variable and unpredictable. Here, we review the genotype-phenotype correlations in NF1. Some NF1 patients with a given NF1<\/em> mutation may develop very severe disease while others with the same mutation have only mild symptoms, even in the same family. The clinical variability may therefore be due to both modifier genes and environmental factors. Recent targeted strategies have identified several interesting candidate modifier genes. (http:\/\/jmg.bmj.com\/content\/49\/8\/483.abstract?etoc<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Although neurofibromatosis 1 (NF1) is a common genetic disorder, its expression is highly variable and unpredictable. Here, we review the genotype-phenotype correlations in NF1. Some NF1 patients with a given NF1 mutation may develop very severe disease while others with the same mutation have only mild symptoms, even in the same family. The clinical variability […]<\/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-352","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nNeurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant) - 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\/2012\/08\/13\/neurofibromatosis-type-1-from-genotype-to-phenotype\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Neurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Although neurofibromatosis 1 (NF1) is a common genetic disorder, its expression is highly variable and unpredictable. 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The clinical variability [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/08\/13\/neurofibromatosis-type-1-from-genotype-to-phenotype\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-08-13T14:30:13+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:34:06+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\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Neurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant)\",\"datePublished\":\"2012-08-13T14:30:13+00:00\",\"dateModified\":\"2026-02-25T20:34:06+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/\"},\"wordCount\":93,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/08\\\/13\\\/neurofibromatosis-type-1-from-genotype-to-phenotype\\\/\",\"name\":\"Neurofibromatosis type 1: from genotype to phenotype (Contributed by Dr. Eric Pasmant) - 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