{"id":"https://openalex.org/W2768302097","doi":"https://doi.org/10.4172/0974-8369.1000414","title":"Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome","display_name":"Further Evidence for the Implication of LZTR1, a Gene not Associated with the Ras-Mapk Pathway, in the Pathogenesis of Noonan Syndrome","publication_year":2017,"publication_date":"2017-01-01","ids":{"openalex":"https://openalex.org/W2768302097","doi":"https://doi.org/10.4172/0974-8369.1000414","mag":"2768302097"},"language":"en","primary_location":{"id":"doi:10.4172/0974-8369.1000414","doi":"https://doi.org/10.4172/0974-8369.1000414","is_oa":true,"landing_page_url":"https://doi.org/10.4172/0974-8369.1000414","pdf_url":"https://doi.org/10.4172/0974-8369.1000414","source":{"id":"https://openalex.org/S4210207698","display_name":"Biology and Medicine","issn_l":"0974-8369","issn":["0974-8369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320466","host_organization_name":"OMICS Publishing Group","host_organization_lineage":["https://openalex.org/P4310320466"],"host_organization_lineage_names":["OMICS Publishing Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biology and Medicine","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.4172/0974-8369.1000414","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5040539173","display_name":"Nehla Ghedira","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Nehla Ghedira","raw_affiliation_strings":["Research Unit 01 / UR/08-14 ,","Research Unit 01/UR/08-14, University of Monastir, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Research Unit 01 / UR/08-14 ,","institution_ids":[]},{"raw_affiliation_string":"Research Unit 01/UR/08-14, University of Monastir, Monastir, Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042287171","display_name":"Lilia Kraoua","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210118449","display_name":"H\u00f4pital Charles-Nicolle","ror":"https://ror.org/02f6ghw27","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210118449"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Lilia Kraoua","raw_affiliation_strings":["Department of Congenital and Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Congenital and Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210118449"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024921834","display_name":"Arnaud Lagarde","orcid":"https://orcid.org/0000-0003-1619-3452","observed_orcids":["https://orcid.org/0000-0003-1619-3452"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Arnaud Lagarde","raw_affiliation_strings":["Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","Departement of Medical Genetics, Children Hospital La Timone, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"]},{"raw_affiliation_string":"Departement of Medical Genetics, Children Hospital La Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069102171","display_name":"Rim Ben Abdelaziz","orcid":"https://orcid.org/0000-0002-7690-1310","observed_orcids":["https://orcid.org/0000-0002-7690-1310"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]},{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]},{"id":"https://openalex.org/I4403386600","display_name":"Facult\u00e9 de m\u00e9decine de Tunis","ror":"https://ror.org/03pyhhg10","country_code":"TN","type":"education","lineage":["https://openalex.org/I4403386600","https://openalex.org/I63596082"]},{"id":"https://openalex.org/I63596082","display_name":"Tunis El Manar University","ror":"https://ror.org/029cgt552","country_code":"TN","type":"education","lineage":["https://openalex.org/I63596082"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Rim Ben Abdelaziz","raw_affiliation_strings":["Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia;","University of Monastir , Monastir , Tunisia","Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia;","institution_ids":["https://openalex.org/I4210098525"]},{"raw_affiliation_string":"University of Monastir , Monastir , Tunisia","institution_ids":["https://openalex.org/I166928557"]},{"raw_affiliation_string":"Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia","institution_ids":["https://openalex.org/I4403386600","https://openalex.org/I63596082"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077144398","display_name":"Sylviane Olschwang","orcid":"https://orcid.org/0000-0001-7078-3029","observed_orcids":["https://orcid.org/0000-0001-7078-3029"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sylviane Olschwang","raw_affiliation_strings":["Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","Departement of Medical Genetics, Children Hospital La Timone, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"]},{"raw_affiliation_string":"Departement of Medical Genetics, Children Hospital La Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021308349","display_name":"Jean\u2010Pierre Desvignes","orcid":"https://orcid.org/0000-0003-3142-1994","observed_orcids":["https://orcid.org/0000-0003-3142-1994"]},"institutions":[{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean Pierre Desvignes","raw_affiliation_strings":["Departement of Medical Genetics, Children Hospital La Timone, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departement of Medical Genetics, Children Hospital La Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052338940","display_name":"Sonia Abdelhak","orcid":"https://orcid.org/0000-0001-8466-5525","observed_orcids":["https://orcid.org/0000-0001-8466-5525"]},"institutions":[{"id":"https://openalex.org/I4210142087","display_name":"Institut Pasteur de Tunis","ror":"https://ror.org/04pwyer06","country_code":"TN","type":"facility","lineage":["https://openalex.org/I4210142087"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Sonia Abdelhak","raw_affiliation_strings":["Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Biomedical Genomics and Oncogenetics LR11IPT05, Institut Pasteur de Tunis, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210142087"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5054269710","display_name":"Kamel Monastiri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]},{"id":"https://openalex.org/I4210167430","display_name":"Hospital Fatuma Bourguiba Monastir","ror":"https://ror.org/05t1yee64","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210167430"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Kamel Monastiri","raw_affiliation_strings":["Department of Intensive Care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia","Research Unit 01 / UR/08-14 ,","Research Unit 01/UR/08-14, University of Monastir, Monastir, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Intensive Care and Neonatal Medicine, CHU Fattouma Bourguiba, Monastir, Tunisia","institution_ids":["https://openalex.org/I4210167430"]},{"raw_affiliation_string":"Research Unit 01 / UR/08-14 ,","institution_ids":[]},{"raw_affiliation_string":"Research Unit 01/UR/08-14, University of Monastir, Monastir, Tunisia","institution_ids":["https://openalex.org/I166928557"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063671279","display_name":"Nicolas L\u00e9vy","orcid":"https://orcid.org/0000-0001-5171-6365","observed_orcids":["https://orcid.org/0000-0001-5171-6365"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Levy","raw_affiliation_strings":["Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","Departement of Medical Genetics, Children Hospital La Timone, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"]},{"raw_affiliation_string":"Departement of Medical Genetics, Children Hospital La Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038169437","display_name":"Annachiara De Sandre\u2010Giovannoli","orcid":"https://orcid.org/0000-0002-2324-2462","observed_orcids":["https://orcid.org/0000-0002-2324-2462"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I21491767","display_name":"Aix-Marseille Universit\u00e9","ror":"https://ror.org/035xkbk20","country_code":"FR","type":"education","lineage":["https://openalex.org/I21491767"]},{"id":"https://openalex.org/I4210162909","display_name":"H\u00f4pital de la Timone","ror":"https://ror.org/05jrr4320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I21491767","https://openalex.org/I4210087487","https://openalex.org/I4210162909"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Annachiara De SandreGiovannoli","raw_affiliation_strings":["Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","Departement of Medical Genetics, Children Hospital La Timone, Marseille, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aix Marseille University, INSERM, GMGF UMR_S 910, Marseille, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I21491767"]},{"raw_affiliation_string":"Departement of Medical Genetics, Children Hospital La Timone, Marseille, France","institution_ids":["https://openalex.org/I4210162909"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020599344","display_name":"Ridha Mrad","orcid":"https://orcid.org/0000-0003-3304-8126","observed_orcids":["https://orcid.org/0000-0003-3304-8126","https://orcid.org/0000-0001-5842-5536"]},"institutions":[{"id":"https://openalex.org/I166928557","display_name":"University of Monastir","ror":"https://ror.org/00nhtcg76","country_code":"TN","type":"education","lineage":["https://openalex.org/I166928557"]},{"id":"https://openalex.org/I4210118449","display_name":"H\u00f4pital Charles-Nicolle","ror":"https://ror.org/02f6ghw27","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210118449"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"Ridha Mrad","raw_affiliation_strings":["Department of Congenital and Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia","Faculty of Medicine , University of Monastir , Monastir , Tunisia,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Congenital and Hereditary Disorders, Charles Nicolle Hospital, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210118449"]},{"raw_affiliation_string":"Faculty of Medicine , University of Monastir , Monastir , Tunisia,","institution_ids":["https://openalex.org/I166928557"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":10,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.7815,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.69503298,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"09","issue":"06","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12104","display_name":"Protein Tyrosine Phosphatases","score":0.9932000041007996,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.005400000140070915,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10169","display_name":"Protein Kinase Regulation and GTPase Signaling","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/noonan-syndrome","display_name":"Noonan syndrome","score":1.0},{"id":"https://openalex.org/keywords/lztr1","display_name":"LZTR1","score":0.9980000257492065},{"id":"https://openalex.org/keywords/ras-mapk-pathway","display_name":"RAS/MAPK pathway","score":0.8709999918937683},{"id":"https://openalex.org/keywords/germline-mutations","display_name":"germline mutations","score":0.8389999866485596},{"id":"https://openalex.org/keywords/novel-pathogenic-variant","display_name":"novel pathogenic variant","score":0.8259999752044678},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.7680000066757202},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.6880000233650208},{"id":"https://openalex.org/keywords/chest-wall-deformity","display_name":"chest wall deformity","score":0.8029999732971191},{"id":"https://openalex.org/keywords/autosomal-dominant-syndrome","display_name":"autosomal dominant syndrome","score":0.574999988079071}],"concepts":[{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.7885880470275879},{"id":"https://openalex.org/C2776149932","wikidata":"https://www.wikidata.org/wiki/Q1543446","display_name":"Noonan syndrome","level":2,"score":0.7173111438751221},{"id":"https://openalex.org/C57074206","wikidata":"https://www.wikidata.org/wiki/Q14197552","display_name":"MAPK/ERK pathway","level":3,"score":0.6279405355453491},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.5433065295219421},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5110455751419067},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4943842887878418},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.383240669965744},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3736461400985718},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3473356068134308},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2790759801864624},{"id":"https://openalex.org/C62478195","wikidata":"https://www.wikidata.org/wiki/Q828130","display_name":"Signal transduction","level":2,"score":0.2387210726737976}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.4172/0974-8369.1000414","doi":"https://doi.org/10.4172/0974-8369.1000414","is_oa":true,"landing_page_url":"https://doi.org/10.4172/0974-8369.1000414","pdf_url":"https://doi.org/10.4172/0974-8369.1000414","source":{"id":"https://openalex.org/S4210207698","display_name":"Biology and Medicine","issn_l":"0974-8369","issn":["0974-8369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320466","host_organization_name":"OMICS Publishing Group","host_organization_lineage":["https://openalex.org/P4310320466"],"host_organization_lineage_names":["OMICS Publishing Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biology and Medicine","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.4172/0974-8369.1000414","doi":"https://doi.org/10.4172/0974-8369.1000414","is_oa":true,"landing_page_url":"https://doi.org/10.4172/0974-8369.1000414","pdf_url":"https://doi.org/10.4172/0974-8369.1000414","source":{"id":"https://openalex.org/S4210207698","display_name":"Biology and Medicine","issn_l":"0974-8369","issn":["0974-8369"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":"https://openalex.org/P4310320466","host_organization_name":"OMICS Publishing Group","host_organization_lineage":["https://openalex.org/P4310320466"],"host_organization_lineage_names":["OMICS Publishing Group"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Biology and Medicine","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2768302097.pdf","grobid_xml":"https://content.openalex.org/works/W2768302097.grobid-xml"},"referenced_works_count":20,"referenced_works":["https://openalex.org/W1978299956","https://openalex.org/W1980018228","https://openalex.org/W1982088425","https://openalex.org/W1982232165","https://openalex.org/W1987413186","https://openalex.org/W2005508652","https://openalex.org/W2022468474","https://openalex.org/W2026012659","https://openalex.org/W2034246581","https://openalex.org/W2049020090","https://openalex.org/W2086452908","https://openalex.org/W2132788683","https://openalex.org/W2142271737","https://openalex.org/W2143454794","https://openalex.org/W2144670703","https://openalex.org/W2155376306","https://openalex.org/W2161533610","https://openalex.org/W2204540292","https://openalex.org/W2768302097","https://openalex.org/W4230421038"],"related_works":["https://openalex.org/W2974624687","https://openalex.org/W4387772616","https://openalex.org/W2996226381","https://openalex.org/W2898562606","https://openalex.org/W2049020090","https://openalex.org/W7196928411","https://openalex.org/W2984854885","https://openalex.org/W4285492964","https://openalex.org/W4307220661","https://openalex.org/W7100578514"],"abstract_inverted_index":{"Background:":[0],"Noonan":[1,107],"Syndrome":[2],"(NS)":[3],"is":[4],"a":[5,51,81,112],"relatively":[6],"common":[7],"autosomal":[8],"dominant":[9],"condition,":[10],"caused":[11],"by":[12],"germline":[13],"mutations":[14,57,89],"in":[15,19,94,106,118],"different":[16],"genes":[17,61],"involved":[18],"the":[20,45,64,86,102],"RAS":[21,65],"MAP":[22],"Kinase":[23],"signaling":[24],"pathway.Although":[25],"clinically":[26,119],"heterogeneous,":[27],"characteristic":[28],"findings":[29],"include":[30],"typical":[31],"facial":[32],"features,":[33],"short":[34],"stature,":[35],"chest":[36],"deformity":[37],"and":[38,47,120],"congenital":[39],"heart":[40],"diseases.Methods:":[41],"Here,":[42],"we":[43],"present":[44],"clinical":[46],"molecular":[48],"characterization":[49],"of":[50,59,97,104],"Tunisian":[52],"patient":[53],"with":[54],"NS.A":[55],"comprehensive":[56],"analysis":[58],"29":[60],"belonging":[62],"to":[63],"pathway":[66],"or":[67],"encoding":[68],"for":[69,115],"interactors":[70],"was":[71],"performed,":[72],"using":[73],"targeted":[74],"next":[75],"generation":[76],"sequencing.":[77],"Results:The":[78],"results":[79],"revealed":[80],"novel":[82],"pathogenic":[83],"substitution":[84],"affecting":[85],"LZTR1,":[87],"whose":[88],"have":[90],"been":[91],"described":[92],"only":[93],"5":[95],"cases":[96],"NS.Conclusion:":[98],"This":[99],"report":[100],"supports":[101],"implication":[103],"LZTR1":[105],"syndrome.Next":[108],"Generation":[109],"Sequencing":[110],"seems":[111],"suitable":[113],"method":[114],"mutation":[116],"detection":[117],"genetically":[121],"heterogeneous":[122],"syndromes":[123],"such":[124],"as":[125],"NS.":[126]},"counts_by_year":[{"year":2024,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2017-12-04T00:00:00"}