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The report outlines key diagnostic considerations, including genetic findings and clinical phenotype evaluation, and discusses supporting evidence from molecular testing. It presents a structured case narrative, covering patient presentation, laboratory and imaging observations, and interpretation of variant pathogenicity. The discussion connects the observed genotype with the syndrome features and summarizes implications for diagnosis and clinical management.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/culler-jones-syndrome-caused-by-gli2-gene-mutation-case-report/415284/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/culler-jones-syndrome-caused-by-gli2-gene-mutation-case-report/415284.png","ImageObject",300,407,{"name":92,"@type":93},"Sophia Brooks","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-10-31","2026-09-28",true,{"@type":102,"interactionType":103,"userInteractionCount":24},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"What syndrome is described in this case report?","Question",{"text":112,"@type":113},"The case report focuses on Culler-Jones syndrome, linking it to a GLI2 gene mutation.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"How is the GLI2 gene mutation used in the diagnosis?",{"text":117,"@type":113},"Molecular testing identifies the GLI2 variant and the report interprets its relevance to the syndrome phenotype.",{"name":119,"@type":110,"acceptedAnswer":120},"What topics does the report cover besides the mutation?",{"text":121,"@type":113},"The report includes patient clinical presentation and supporting diagnostic observations, then discusses how the genotype explains the syndrome features.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},415284,1790972453,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":24,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":44,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962084925636,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","T􀀜PE 􀀛􀀆􀀃􀀓 􀀓p􀀜􀀅􀀔  \nPUB􀀞ISHED 19 D􀀓􀀚􀀓m􀀌􀀓􀀅 2025 DOI 10.3389/fp􀀓􀀍 .2025.1699082  \n 􀀁􀀂􀀃􀀄 􀀆􀀄􀀇􀀈􀀉􀀊􀀋 􀀌 􀀍􀀂􀀃􀀄 􀀈􀀎 􀀁􀀏􀀐􀀐􀀄􀀉􀀑  􀀒􀀈􀀓􀀄􀀃 􀀃􀀔􀀓􀀕􀀉􀀈􀀖􀀄 􀀍􀀂􀀏􀀃􀀄􀀕 􀀗􀀔 􀀁􀀂􀀃􀀄  \n􀀁􀀂􀀃􀀄􀀁􀀂 􀀆􀀇  \n􀀁􀀂􀀃􀀄􀀅􀀆 􀀈􀀄􀀆􀀉􀀊  \n􀀋􀀌􀀍􀀂􀀎 􀀏􀀆􀀎􀀐 􀀈􀀄􀀆􀀉 􀀑􀀉􀀐􀀒􀀓􀀅􀀃􀀐􀀔􀀕 􀀖􀀆􀀅􀀍􀀆􀀉􀀊 􀀗􀀆􀀘􀀐􀀃􀀔􀀆􀀉  \n􀀈􀀁􀀉􀀃􀀁􀀊􀀁􀀂 􀀆􀀇  \n􀀋􀀉􀀃􀀄􀀐􀀘􀀆 􀀖􀀐􀀃􀀄􀀅􀀆􀀊  \n􀀙􀀆􀀅􀀆􀀐􀀉􀀆 􀀖􀀓􀀍􀀐􀀚􀀆􀀎 􀀛􀀜􀀎􀀎􀀓􀀝􀀓 􀀞 􀀓􀀃􀀓􀀆􀀅􀀚􀀄 􀀛􀀓􀀉􀀔􀀅􀀓􀀊 I􀀉􀀍􀀐􀀆  \nS􀀆􀀐􀀅􀀆 F􀀆􀀅m􀀆􀀉􀀊  \n􀀋􀀌􀀍􀀂􀀎 􀀏􀀆􀀎􀀐 􀀈􀀄􀀆􀀉 􀀑􀀉􀀐􀀒􀀓􀀅􀀃􀀐􀀔􀀕 􀀖􀀆􀀅􀀍􀀆􀀉􀀊 􀀗􀀆􀀘􀀐􀀃􀀔􀀆􀀉􀀙􀀜􀀜􀀅 S􀀄􀀆􀀍 􀀁􀀐􀀌􀀐􀀊  \n􀀋􀀌􀀍􀀂􀀎 􀀏􀀆􀀎􀀐 􀀈􀀄􀀆􀀉 􀀑􀀉􀀐􀀒􀀓􀀅􀀃􀀐􀀔􀀕 􀀖􀀆􀀅􀀍􀀆􀀉􀀊 􀀗􀀆􀀘􀀐􀀃􀀔􀀆􀀉  \n*􀀋􀀌􀀈􀀈􀀁􀀍􀀎􀀌􀀏􀀂􀀁􀀏􀀋􀀁  \nF􀀆􀀉 􀀏􀀆􀀉􀀝  \n w􀀆􀀉􀀝f􀀆􀀉1018@􀀃􀀐􀀉􀀆 .􀀚􀀜m 􀀈􀀁􀀋􀀁􀀃􀀉􀀁􀀂 04 S􀀓p􀀔􀀓m􀀌􀀓􀀅 2025  \n􀀈􀀁􀀉􀀃􀀍􀀁􀀂 07 D􀀓􀀚􀀓m􀀌􀀓􀀅 2025  \n􀀐􀀋􀀋􀀁􀀎􀀄􀀁􀀂 08 D􀀓􀀚􀀓m􀀌􀀓􀀅 2025  \n􀀎􀀑􀀆􀀒􀀃􀀍􀀓􀀁􀀂 19 D􀀓􀀚􀀓m􀀌􀀓􀀅 2025  \n􀀋􀀃􀀄􀀐􀀄􀀃􀀌􀀏  \nX􀀐􀀓 X􀀊 􀀏􀀓􀀐 Y􀀊 L􀀐 Y􀀊 􀀏􀀆􀀉􀀝 J􀀊 Z􀀄􀀆􀀉􀀝 Y􀀊 􀀏􀀂 J 􀀆􀀉􀀍􀀏􀀆􀀉􀀝 F (2025) 􀀛􀀆􀀃􀀓 􀀓p􀀜􀀅􀀔: 􀀋 􀀚􀀆􀀃􀀓 􀀜f 􀀛􀀂􀀎􀀎􀀓􀀅 -J􀀜􀀉􀀓􀀃 􀀃􀀕􀀉􀀍􀀅􀀜m􀀓 􀀚􀀆􀀂􀀃􀀓􀀍 􀀌􀀕 􀀁􀀂􀀃􀀄 􀀝􀀓􀀉􀀓 m􀀂􀀔􀀆􀀔􀀐􀀜􀀉 .  \nF􀀅􀀜􀀉􀀔 . 􀀗􀀓􀀍􀀐􀀆􀀔􀀅 . 13:1699082 .  \n􀀍􀀜􀀐: 10.3389/fp􀀓􀀍 .2025.1699082  \n􀀋􀀌􀀎􀀇􀀈􀀃􀀔􀀓􀀄  \n© 2025 X􀀐􀀓􀀊 􀀏􀀓􀀐􀀊 L􀀐􀀊 􀀏􀀆􀀉􀀝􀀊 Z􀀄􀀆􀀉􀀝􀀊 􀀏􀀂 􀀆􀀉􀀍􀀏􀀆􀀉􀀝 . T􀀄􀀐􀀃 􀀐􀀃 􀀆􀀉 􀀜p􀀓􀀉-􀀆􀀚􀀚􀀓􀀃􀀃 􀀆􀀅􀀔􀀐􀀚􀀎􀀓􀀍􀀐􀀃􀀔􀀅􀀐􀀌􀀂􀀔􀀓􀀍 􀀂􀀉􀀍􀀓􀀅 􀀔􀀄􀀓 􀀔􀀓􀀅m􀀃 􀀜f 􀀔􀀄􀀓 􀀛􀀅􀀓􀀆􀀔􀀐􀀒􀀓􀀛􀀜mm􀀜􀀉􀀃 􀀋􀀔􀀔􀀅􀀐􀀌􀀂􀀔􀀐􀀜􀀉 L􀀐􀀚􀀓􀀉􀀃􀀓 (􀀛􀀛 􀀁Y) . T􀀄􀀓􀀂􀀃􀀓􀀊 􀀍􀀐􀀃􀀔􀀅􀀐􀀌􀀂􀀔􀀐􀀜􀀉 􀀜􀀅 􀀅􀀓p􀀅􀀜􀀍􀀂􀀚􀀔􀀐􀀜􀀉 􀀐􀀉 􀀜􀀔􀀄􀀓􀀅 f􀀜􀀅􀀂m􀀃 􀀐􀀃 p􀀓􀀅m􀀐􀀔􀀔􀀓􀀍􀀊 p􀀅􀀜􀀒􀀐􀀍􀀓􀀍 􀀔􀀄􀀓 􀀜􀀅􀀐􀀝􀀐􀀉􀀆􀀎􀀆􀀂􀀔􀀄􀀜􀀅(􀀃) 􀀆􀀉􀀍 􀀔􀀄􀀓 􀀚􀀜p􀀕􀀅􀀐􀀝􀀄􀀔 􀀜w􀀉􀀓􀀅(􀀃) 􀀆􀀅􀀓􀀚􀀅􀀓􀀍􀀐􀀔􀀓􀀍 􀀆􀀉􀀍 􀀔􀀄􀀆􀀔 􀀔􀀄􀀓 􀀜􀀅􀀐􀀝􀀐􀀉􀀆􀀎 p􀀂􀀌􀀎􀀐􀀚􀀆􀀔􀀐􀀜􀀉 􀀐􀀉􀀔􀀄􀀐􀀃 j􀀜􀀂􀀅􀀉􀀆􀀎 􀀐􀀃 􀀚􀀐􀀔􀀓􀀍􀀊 􀀐􀀉 􀀆􀀚􀀚􀀜􀀅􀀍􀀆􀀉􀀚􀀓 w􀀐􀀔􀀄􀀆􀀚􀀚􀀓p􀀔􀀓􀀍 􀀆􀀚􀀆􀀍􀀓m􀀐􀀚 p􀀅􀀆􀀚􀀔􀀐􀀚􀀓 . 􀀙􀀜 􀀂􀀃􀀓􀀊􀀍􀀐􀀃􀀔􀀅􀀐􀀌􀀂􀀔􀀐􀀜􀀉 􀀜􀀅 􀀅􀀓p􀀅􀀜􀀍􀀂􀀚􀀔􀀐􀀜􀀉 􀀐􀀃 p􀀓􀀅m􀀐􀀔􀀔􀀓􀀍 w􀀄􀀐􀀚􀀄 􀀍􀀜􀀓􀀃 􀀉􀀜􀀔 􀀚􀀜mp􀀎􀀕 w􀀐􀀔􀀄 􀀔􀀄􀀓􀀃􀀓 􀀔􀀓􀀅m􀀃 .  \n􀀘􀀄􀀓􀀄 􀀖􀀏􀀊􀀂􀀊􀀙􀀈􀀓  \n􀀚􀀙􀀂􀀈􀀖􀀄􀀙 􀀚􀀙􀀄􀀛 􀀜􀀈􀀏􀀎􀀄􀀓 􀀝􀀄􀀙􀀛 􀀜􀀄 􀀞􀀙􀀛 􀀒􀀏􀀓􀀔􀀂􀀓 􀀝􀀂􀀓􀀘􀀛 􀀜􀀂􀀊􀀙􀀓􀀘 h􀀂􀀓􀀘􀀛􀀒􀀙􀀄 􀀝􀀏 􀀂􀀓􀀕 F􀀂􀀓 􀀝􀀂􀀓􀀘 *  \nD􀀓p􀀆􀀅􀀔m􀀓􀀉􀀔 􀀜f 􀀙􀀓􀀜􀀉􀀆􀀔􀀜􀀎􀀜􀀝􀀕􀀊 T􀀄􀀓 S􀀓􀀚􀀜􀀉􀀍 H􀀜􀀃p􀀐􀀔􀀆􀀎 􀀜f L􀀆􀀉z􀀄􀀜􀀂 􀀑􀀉􀀐􀀒􀀓􀀅􀀃􀀐􀀔􀀕􀀊 L􀀆􀀉z􀀄􀀜􀀂􀀊 􀀛􀀄􀀐􀀉􀀆  \n􀀛􀀂􀀎􀀎􀀓􀀅-J􀀜􀀉􀀓􀀃 􀀃􀀕􀀉􀀍􀀅􀀜m􀀓 (􀀛JS) (O􀀖I􀀖: 615849) 􀀐􀀃 􀀆 􀀅􀀆􀀅􀀓 􀀝􀀓􀀉􀀓􀀔􀀐􀀚 􀀚􀀜􀀉􀀍􀀐􀀔􀀐􀀜􀀉􀀚􀀄􀀆􀀅􀀆􀀚􀀔􀀓􀀅􀀐z􀀓􀀍 􀀌􀀕 􀀚􀀜􀀉􀀃􀀐􀀍􀀓􀀅􀀆􀀌􀀎􀀓 p􀀄􀀓􀀉􀀜􀀔􀀕p􀀐􀀚 􀀒􀀆􀀅􀀐􀀆􀀌􀀐􀀎􀀐􀀔􀀕 . T􀀄􀀐􀀃 􀀚􀀆􀀃􀀓 􀀅􀀓p􀀜􀀅􀀔􀀃 􀀆 5-􀀍􀀆􀀕-􀀜􀀎􀀍 m􀀆􀀎􀀓 􀀉􀀓􀀜􀀉􀀆􀀔􀀓 w􀀄􀀜 p􀀅􀀓􀀃􀀓􀀉􀀔􀀓􀀍 w􀀐􀀔􀀄 p􀀜􀀃􀀔􀀆x􀀐􀀆􀀎 p􀀜􀀎􀀕􀀍􀀆􀀚􀀔􀀕􀀎􀀕􀀊 􀀝􀀅􀀜w􀀔􀀄􀀅􀀓􀀃􀀔􀀅􀀐􀀚􀀔􀀐􀀜􀀉􀀊 􀀆􀀉􀀍 􀀅􀀓􀀚􀀂􀀅􀀅􀀓􀀉􀀔 􀀓p􀀐􀀎􀀓p􀀔􀀐􀀚 􀀃􀀓􀀐z􀀂􀀅􀀓􀀃 . 􀀋 􀀔􀀄􀀜􀀅􀀜􀀂􀀝􀀄 􀀚􀀎􀀐􀀉􀀐􀀚􀀆􀀎 w􀀜􀀅􀀘􀀂p􀀊􀀐􀀉􀀚􀀎􀀂􀀍􀀐􀀉􀀝 􀀎􀀆􀀌􀀜􀀅􀀆􀀔􀀜􀀅􀀕 􀀐􀀉􀀒􀀓􀀃􀀔􀀐􀀝􀀆􀀔􀀐􀀜􀀉􀀃􀀊 􀀐m􀀆􀀝􀀐􀀉􀀝􀀊 􀀆􀀉􀀍 􀀝􀀓􀀉􀀓􀀔􀀐􀀚 􀀆􀀉􀀆􀀎􀀕􀀃􀀐􀀃􀀊 􀀅􀀓􀀃􀀂􀀎􀀔􀀓􀀍 􀀐􀀉 􀀆􀀚􀀜􀀉fi􀀅m􀀓􀀍 􀀍􀀐􀀆􀀝􀀉􀀜􀀃􀀐􀀃 􀀜f 􀀛􀀂􀀎􀀎􀀓􀀅-J􀀜􀀉􀀓􀀃 􀀃􀀕􀀉􀀍􀀅􀀜m􀀓 . 􀀗􀀓􀀅􀀐p􀀄􀀓􀀅􀀆􀀎 􀀌􀀎􀀜􀀜􀀍 􀀃􀀆mp􀀎􀀓􀀃􀀚􀀜􀀎􀀎􀀓􀀚􀀔􀀓􀀍 f􀀅􀀜m 􀀔􀀄􀀓 p􀀅􀀜􀀌􀀆􀀉􀀍 􀀆􀀉􀀍 􀀄􀀐􀀃 p􀀆􀀅􀀓􀀉􀀔􀀃 w􀀓􀀅􀀓 􀀂􀀃􀀓􀀍 f􀀜􀀅 D􀀙􀀋 􀀓x􀀔􀀅􀀆􀀚􀀔􀀐􀀜􀀉 .􀀏􀀄􀀜􀀎􀀓-􀀓x􀀜m􀀓 􀀃􀀓q􀀂􀀓􀀉􀀚􀀐􀀉􀀝 (􀀏ES) 􀀐􀀍􀀓􀀉􀀔􀀐fi􀀓􀀍 􀀆 􀀄􀀓􀀔􀀓􀀅􀀜z􀀕􀀝􀀜􀀂􀀃 􀀉􀀜􀀉􀀃􀀓􀀉􀀃􀀓 􀀒􀀆􀀅􀀐􀀆􀀉􀀔􀀐􀀉 􀀔􀀄􀀓 􀀁􀀂􀀃􀀄 􀀝􀀓􀀉􀀓􀀊 [􀀚 . 2137(􀀓x􀀜􀀉13)G>T/p. (E713􀀊857) (􀀙􀀖 _ 001374353)]􀀊 w􀀄􀀐􀀚􀀄 w􀀆􀀃 􀀃􀀂􀀌􀀃􀀓q􀀂􀀓􀀉􀀔􀀎􀀕 􀀒􀀆􀀎􀀐􀀍􀀆􀀔􀀓􀀍 􀀌􀀕 S􀀆􀀉􀀝􀀓􀀅 􀀃􀀓q􀀂􀀓􀀉􀀚􀀐􀀉􀀝 􀀆􀀉􀀍 􀀍􀀓􀀔􀀓􀀅m􀀐􀀉􀀓􀀍 􀀔􀀜 􀀌􀀓 m􀀆􀀔􀀓􀀅􀀉􀀆􀀎􀀎􀀕 􀀐􀀉􀀄􀀓􀀅􀀐􀀔􀀓􀀍 . T􀀄􀀐􀀃 m􀀂􀀔􀀆􀀔􀀐􀀜􀀉 􀀄􀀆􀀃 􀀉􀀜􀀔 􀀌􀀓􀀓􀀉 p􀀅􀀓􀀒􀀐􀀜􀀂􀀃􀀎􀀕 􀀍􀀜􀀚􀀂m􀀓􀀉􀀔􀀓􀀍 􀀐􀀉􀀔􀀄􀀓 􀀎􀀐􀀔􀀓􀀅􀀆􀀔􀀂􀀅􀀓 . 􀀁􀀕 􀀍􀀓􀀔􀀆􀀐􀀎􀀐􀀉􀀝 􀀔􀀄􀀓 􀀚􀀎􀀐􀀉􀀐􀀚􀀆􀀎 p􀀅􀀓􀀃􀀓􀀉􀀔􀀆􀀔􀀐􀀜􀀉􀀊 􀀝􀀓􀀉􀀓􀀔􀀐􀀚 fi􀀉􀀍􀀐􀀉􀀝􀀃􀀊 􀀆􀀉􀀍􀀅􀀓􀀎􀀓􀀒􀀆􀀉􀀔 􀀚􀀜􀀉􀀔􀀓x􀀔􀀊 􀀔􀀄􀀐􀀃 􀀚􀀆􀀃􀀓 􀀅􀀓p􀀜􀀅􀀔 􀀆􀀐m􀀃 􀀔􀀜 􀀌􀀅􀀜􀀆􀀍􀀓􀀉 􀀔􀀄􀀓 􀀘􀀉􀀜w􀀉 p􀀄􀀓􀀉􀀜􀀔􀀕p􀀐􀀚􀀃p􀀓􀀚􀀔􀀅􀀂m 􀀜f 􀀛􀀂􀀎􀀎􀀓􀀅-J􀀜􀀉􀀓􀀃 􀀃􀀕􀀉􀀍􀀅􀀜m􀀓 􀀆􀀉􀀍 􀀃􀀂pp􀀜􀀅􀀔 􀀚􀀎􀀐􀀉􀀐􀀚􀀐􀀆􀀉􀀃 􀀐􀀉 􀀓􀀆􀀅􀀎􀀕 􀀍􀀓􀀔􀀓􀀚􀀔􀀐􀀜􀀉􀀆􀀉􀀍 􀀍􀀐􀀆􀀝􀀉􀀜􀀃􀀐􀀃 .  \n􀀕􀀁􀀇􀀊􀀌􀀈􀀂􀀍  \n􀀋􀀖􀀗􀀗􀀘􀀙􀀚􀀛􀀜􀀝􀀘􀀞 􀀞 􀀝d􀀙􀀜m􀀘, d􀀘v􀀘􀀗􀀜pm􀀘􀀝ta􀀗 d􀀘􀀗a , 􀀘pi􀀗􀀘p􀀞 , 􀀁􀀂􀀃􀀄, p􀀜􀀗 dact 􀀗 , wh􀀜􀀗􀀘􀀘x􀀜m􀀘 􀀞􀀘q􀀖􀀘􀀝ci􀀝g  \n1 I􀀓􀀊􀀉􀀈􀀕􀀏􀀍􀀊􀀙􀀈􀀓  \n􀀁􀀂􀀃􀀃􀀄􀀅􀀆􀀇􀀈􀀉􀀄􀀊 􀀊􀀌􀀉􀀍􀀅􀀈􀀎􀀄 􀀏􀀁􀀇􀀐􀀑 􀀒􀀓􀀔􀀓􀀕 􀀖􀀗􀀘􀀙􀀚􀀛􀀜 􀀝􀀊 􀀞 􀀅􀀞􀀅􀀄 􀀞􀀂 􀀈􀀊􀀈􀀎􀀞􀀃􀀆􀀍􀀈􀀎􀀝􀀉􀀞􀀉 􀀍􀀝􀀊􀀈􀀅􀀍􀀄􀀅 c􀀞􀀂􀀊􀀄􀀍 b􀀌 p􀀞 h􀀈g􀀄􀀉􀀝c v􀀞􀀅􀀝􀀞􀀉 􀀊 􀀝􀀉 h􀀄 􀀁􀀂􀀃􀀄 g􀀄􀀉􀀄 􀀈􀀉 ch􀀅􀀈􀀎􀀈􀀊􀀈􀀎􀀄 2q􀀗􀀚 􀀏􀀗􀀜 . Th􀀄 􀀊􀀌􀀉􀀍􀀅􀀈􀀎􀀄􀀝􀀊 ch􀀞􀀅􀀞c 􀀄􀀅􀀝z􀀄􀀍 b􀀌 􀀝􀀉c􀀈􀀎p􀀃􀀄 􀀄 p􀀄􀀉􀀄 􀀅􀀞􀀉c􀀄 􀀞􀀉􀀍 v􀀞􀀅􀀝􀀞b􀀃􀀄 􀀄xp􀀅􀀄􀀊􀀊􀀝v􀀝 􀀌, 􀀅􀀄􀀊􀀂􀀃 􀀝􀀉g 􀀝􀀉􀀊􀀝g􀀉􀀝fic􀀞􀀉 c􀀃􀀝􀀉􀀝c􀀞􀀃 h􀀄 􀀄􀀅􀀈g􀀄􀀉􀀄􀀝 􀀌 􀀞􀀉􀀍 f􀀅􀀄q􀀂􀀄􀀉 􀀍􀀝􀀞g􀀉􀀈􀀊 􀀝c 􀀂􀀉c􀀄􀀅 􀀞􀀝􀀉 􀀌. 􀀁􀀈􀀅􀀄 c􀀃􀀝􀀉􀀝c􀀞􀀃 f􀀄􀀞 􀀂􀀅􀀄􀀊 􀀝􀀉c􀀃􀀂􀀍􀀄 h􀀌p􀀈p􀀝 􀀂􀀝 􀀞􀀅􀀝􀀊􀀎, p􀀈􀀊 􀀞x􀀝􀀞􀀃 p􀀈􀀃􀀌􀀍􀀞c 􀀌􀀃􀀌, 􀀊􀀄􀀝z􀀂􀀅􀀄􀀊, 􀀝􀀉 􀀄􀀃􀀃􀀄c 􀀂􀀞􀀃 􀀍􀀝􀀊􀀞b􀀝􀀃􀀝 􀀌,􀀞􀀉􀀍 g􀀅􀀈w h 􀀝􀀎p􀀞􀀝􀀅􀀎􀀄􀀉 . 􀀒 h􀀄􀀅 􀀎􀀞􀀉􀀝f􀀄􀀊 􀀞 􀀝􀀈􀀉􀀊 􀀍􀀄􀀊c􀀅􀀝b􀀄􀀍 􀀝􀀉 􀀊􀀈􀀎􀀄 p􀀞 􀀝􀀄􀀉 􀀊 􀀝􀀉c􀀃􀀂􀀍􀀄 c􀀅􀀞􀀉􀀝􀀈f􀀞c􀀝􀀞􀀃 􀀞b􀀉􀀈􀀅􀀎􀀞􀀃􀀝 􀀝􀀄􀀊, 􀀊􀀂ch 􀀞􀀊 􀀎􀀝􀀍f􀀞c􀀝􀀞􀀃 h􀀌p􀀈p􀀃􀀞􀀊􀀝􀀞, c􀀃􀀄f 􀀃􀀝p 􀀈􀀅 p􀀞􀀃􀀞 􀀄, p 􀀈􀀊􀀝􀀊, 􀀞􀀉􀀍􀀎􀀝c􀀅􀀈c􀀄ph􀀞􀀃􀀌, 􀀞􀀊 w􀀄􀀃􀀃 􀀞􀀊 g􀀄􀀉􀀝 􀀞􀀃 􀀞􀀉􀀈􀀎􀀞􀀃􀀝􀀄􀀊 􀀃􀀝k􀀄 􀀎􀀝c􀀅􀀈p􀀄􀀉􀀝􀀊 􀀞􀀉􀀍 c􀀅􀀌p 􀀈􀀅ch􀀝􀀍􀀝􀀊􀀎 􀀏2, 3􀀜 . R􀀄c􀀄􀀉 c􀀞􀀊􀀄 􀀅􀀄p􀀈􀀅 􀀊 f􀀅􀀈􀀎 v􀀞􀀅􀀝􀀈􀀂􀀊 􀀅􀀄g􀀝􀀈􀀉􀀊 h􀀞v􀀄 c􀀈􀀉 􀀝􀀉􀀂􀀄􀀍 􀀈 b􀀅􀀈􀀞􀀍􀀄􀀉 h􀀄 􀀅􀀄c􀀈g􀀉􀀝z􀀄􀀍 ph􀀄􀀉􀀈 􀀌p􀀝c 􀀊p􀀄c 􀀅􀀂􀀎 􀀈f h􀀄 􀀍􀀝􀀊􀀈􀀅􀀍􀀄􀀅, 􀀌􀀄 􀀎􀀞􀀉􀀌 􀀞􀀊p􀀄c 􀀊 􀀈f 􀀁􀀇􀀐 􀀅􀀄􀀎􀀞􀀝􀀉 􀀝􀀉􀀊􀀂ffic􀀝􀀄􀀉 􀀃􀀌􀀍􀀄fi􀀉􀀄􀀍 . 􀀔􀀉 􀀄􀀅p􀀅􀀄 􀀞 􀀝􀀈􀀉 􀀈f 􀀁􀀂􀀃􀀄 v􀀞􀀅􀀝􀀞􀀉 􀀊 􀀝􀀊 f􀀂􀀅 h􀀄􀀅 c􀀈􀀎p􀀃􀀝c􀀞 􀀄􀀍 b􀀌 h􀀄 p􀀅􀀄􀀊􀀄􀀉c􀀄 􀀈fc􀀄􀀅 􀀞􀀝􀀉 􀀎􀀂 􀀞 􀀝􀀈􀀉􀀊 􀀝􀀉 h􀀄 g􀀄􀀉􀀄􀀅􀀞􀀃 p􀀈p􀀂􀀃􀀞 􀀝􀀈􀀉 h􀀞 􀀃􀀞ck c􀀃􀀄􀀞􀀅 c􀀃􀀝􀀉􀀝c􀀞􀀃 c􀀈􀀉􀀊􀀄q􀀂􀀄􀀉c􀀄􀀊, 􀀞􀀊 w􀀄􀀃􀀃 􀀞􀀊 b􀀌 􀀄􀀉v􀀝􀀅􀀈􀀉􀀎􀀄􀀉 􀀞􀀃 f􀀞c 􀀈􀀅􀀊 h􀀞 􀀝􀀉3􀀂􀀄􀀉c􀀄 ph􀀄􀀉􀀈 􀀌p􀀝c 􀀄xp􀀅􀀄􀀊􀀊􀀝􀀈􀀉 􀀏􀀚–􀀖􀀜 . Th􀀄 h􀀄 􀀄􀀅􀀈z􀀌g􀀈􀀂􀀊 􀀁􀀂􀀃􀀄 v􀀞􀀅􀀝􀀞􀀉 􀀝􀀍􀀄􀀉 􀀝fi􀀄􀀍 􀀝􀀉 􀀈􀀂􀀅 p􀀞 􀀝􀀄􀀉 [c.2􀀗37􀀏􀀄x􀀈􀀉􀀗3􀀜G>T/p.􀀏E7􀀗3,􀀙􀀘7􀀜, N􀀓 _ 00􀀗37􀀚3􀀘3] h􀀞􀀊 􀀉􀀈 b􀀄􀀄􀀉 p􀀅􀀄v􀀝􀀈􀀂􀀊􀀃􀀌 􀀍􀀈c􀀂􀀎􀀄􀀉 􀀄􀀍 . Th􀀝􀀊 c􀀞􀀊􀀄 c􀀈􀀉 􀀅􀀝b􀀂 􀀄􀀊 􀀈 h􀀄􀀄xp􀀞􀀉􀀍􀀝􀀉g c􀀃􀀝􀀉􀀝c􀀞􀀃 􀀞􀀉􀀍 g􀀄􀀉􀀄 􀀝c 􀀂􀀉􀀍􀀄􀀅􀀊 􀀞􀀉􀀍􀀝􀀉g 􀀈f 􀀁􀀇􀀐 􀀞􀀉􀀍 􀀂􀀉􀀍􀀄􀀅􀀊c􀀈􀀅􀀄􀀊 h􀀄 v􀀞􀀃􀀂􀀄 􀀈fg􀀄􀀉􀀄 􀀝c 􀀄􀀊 􀀝􀀉g f􀀈􀀅 􀀞cc􀀂􀀅􀀞 ","cbCaicFKu7yMHmPi","https://ap.wps.com/l/cbCaicFKu7yMHmPi","pdf",1159506,"English","# Case Presentation\n## Genetic Findings and Interpretation\n## Discussion and Implications","[{\"question\":\"What syndrome is described in this case report?\",\"answer\":\"The case report focuses on Culler-Jones syndrome, linking it to a GLI2 gene mutation.\"},{\"question\":\"How is the GLI2 gene mutation used in the diagnosis?\",\"answer\":\"Molecular testing identifies the GLI2 variant and the report interprets its relevance to the syndrome phenotype.\"},{\"question\":\"What topics does the report cover besides the mutation?\",\"answer\":\"The report includes patient clinical presentation and supporting diagnostic observations, then discusses how the genotype explains the syndrome features.\"}]","Culler-Jones syndrome caused by GLI2 gene mutation - Case report | PDF",1790600826,23]