{"id":"https://openalex.org/W7124140095","doi":"https://doi.org/10.5867/medwave.2026.01.3155","title":"Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series","display_name":"Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series","publication_year":2026,"publication_date":"2026-01-14","ids":{"openalex":"https://openalex.org/W7124140095","doi":"https://doi.org/10.5867/medwave.2026.01.3155","pmid":"https://pubmed.ncbi.nlm.nih.gov/41534036"},"language":"en","primary_location":{"id":"doi:10.5867/medwave.2026.01.3155","doi":"https://doi.org/10.5867/medwave.2026.01.3155","is_oa":true,"landing_page_url":"https://doi.org/10.5867/medwave.2026.01.3155","pdf_url":"https://www.medwave.cl/medios//investigacion/estudios/3155/medwave_2025_3155.pdf","source":{"id":"https://openalex.org/S2737451355","display_name":"Medwave","issn_l":"0717-6384","issn":["0717-6384"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310315525","host_organization_name":"Medwave Estudios Limitada","host_organization_lineage":["https://openalex.org/P4310315525"],"host_organization_lineage_names":["Medwave Estudios Limitada"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medwave","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.medwave.cl/medios//investigacion/estudios/3155/medwave_2025_3155.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074567304","display_name":"Elius Paz\u2010Cruz","orcid":"https://orcid.org/0000-0003-0062-6030","observed_orcids":["https://orcid.org/0000-0003-0062-6030"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Elius Paz-Cruz","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0003-0062-6030","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068857247","display_name":"Patricia Guevara\u2010Ram\u00edrez","orcid":"https://orcid.org/0000-0002-4829-3653","observed_orcids":["https://orcid.org/0000-0002-4829-3653"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Patricia Guevara-Ramirez","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0002-4829-3653","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020003381","display_name":"Arianne Llamos Paneque","orcid":"https://orcid.org/0000-0002-7161-1787","observed_orcids":["https://orcid.org/0000-0002-7161-1787"]},"institutions":[{"id":"https://openalex.org/I4210118937","display_name":"Universidad Israel","ror":"https://ror.org/029zzvq50","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210118937"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Arianne Llamos Paneque","raw_affiliation_strings":["School of Medicine, Tecnologhycal Israel University, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0002-7161-1787","affiliations":[{"raw_affiliation_string":"School of Medicine, Tecnologhycal Israel University, Quito, Ecuador","institution_ids":["https://openalex.org/I4210118937"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076424530","display_name":"Emily Onofre","orcid":"https://orcid.org/0000-0002-5806-1442","observed_orcids":["https://orcid.org/0000-0002-5806-1442"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Emily Onofre","raw_affiliation_strings":["Medical Genetic Services, Specialties Hospital FF. AA. N\u00b0 1, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0002-5806-1442","affiliations":[{"raw_affiliation_string":"Medical Genetic Services, Specialties Hospital FF. AA. N\u00b0 1, Quito, Ecuador","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5123023106","display_name":"Christian Rivas Iglesias","orcid":"https://orcid.org/0000-0003-0599-1408","observed_orcids":["https://orcid.org/0000-0003-0599-1408"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christian Rivas Iglesias","raw_affiliation_strings":["Medical Genetic Services, Specialties Hospital FF. AA. N\u00b0 1, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0003-0599-1408","affiliations":[{"raw_affiliation_string":"Medical Genetic Services, Specialties Hospital FF. AA. N\u00b0 1, Quito, Ecuador","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004104130","display_name":"Santiago Cadena-Ullauri","orcid":"https://orcid.org/0000-0001-8463-6046","observed_orcids":["https://orcid.org/0000-0001-8463-6046"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Santiago Cadena-Ullauri","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0001-8463-6046","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010580419","display_name":"Rafael Tamayo\u2010Trujillo","orcid":"https://orcid.org/0000-0001-9059-3281","observed_orcids":["https://orcid.org/0000-0001-9059-3281"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Rafael Tamayo-Trujillo","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0001-9059-3281","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079074364","display_name":"Viviana A. Ruiz\u2010Pozo","orcid":"https://orcid.org/0000-0001-9301-2614","observed_orcids":["https://orcid.org/0000-0001-9301-2614"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Viviana A. Ruiz-Pozo","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0001-9301-2614","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051753481","display_name":"Daniel Simancas\u2010Racines","orcid":"https://orcid.org/0000-0002-3641-1501","observed_orcids":["https://orcid.org/0000-0002-3641-1501"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Daniel Simancas-Racines","raw_affiliation_strings":["Centro de Investigaci\u00f3n en Salud P\u00fablica y Epidemiolog\u00eda Cl\u00ednica (CISPEC), Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0002-3641-1501","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n en Salud P\u00fablica y Epidemiolog\u00eda Cl\u00ednica (CISPEC), Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073359409","display_name":"Ana Karina Zambrano","orcid":"https://orcid.org/0000-0003-4102-3965","observed_orcids":["https://orcid.org/0000-0003-4102-3965"]},"institutions":[{"id":"https://openalex.org/I4210091861","display_name":"Universidad UTE","ror":"https://ror.org/00dmdt028","country_code":"EC","type":"education","lineage":["https://openalex.org/I4210091861"]}],"countries":["EC"],"is_corresponding":false,"raw_author_name":"Ana Karina Zambrano","raw_affiliation_strings":["Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"],"raw_orcid":"https://orcid.org/0000-0003-4102-3965","affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador","institution_ids":["https://openalex.org/I4210091861"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":600,"currency":"USD","value_usd":600},"apc_paid":{"value":600,"currency":"USD","value_usd":600},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0333528,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"26","issue":"01","first_page":"e3155","last_page":"e3155"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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/T12226","display_name":"Neuroblastoma Research and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":1.0},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.9900000095367432},{"id":"https://openalex.org/keywords/plexiform-neurofibroma","display_name":"plexiform neurofibroma","score":0.8169999718666077},{"id":"https://openalex.org/keywords/cafe-au-lait-macules","display_name":"caf\u00e9-au-lait spots","score":0.972000002861023},{"id":"https://openalex.org/keywords/native-american-ancestry","display_name":"Native American ancestry","score":0.9070000052452087},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.7559999823570251},{"id":"https://openalex.org/keywords/pediatric-diagnosis","display_name":"pediatric diagnosis","score":0.5210000276565552},{"id":"https://openalex.org/keywords/ecuadorian-patients","display_name":"Ecuadorian patients","score":0.8109999895095825}],"concepts":[{"id":"https://openalex.org/C2778984943","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatosis","level":2,"score":0.8493000268936157},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8375999927520752},{"id":"https://openalex.org/C143724316","wikidata":"https://www.wikidata.org/wiki/Q312468","display_name":"Series (stratigraphy)","level":2,"score":0.6003000140190125},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5181000232696533},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.43639999628067017},{"id":"https://openalex.org/C2778102573","wikidata":"https://www.wikidata.org/wiki/Q7616509","display_name":"Neurofibromatosis type I","level":3,"score":0.38530001044273376},{"id":"https://openalex.org/C2909023644","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatoses","level":3,"score":0.3580000102519989},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.35440000891685486},{"id":"https://openalex.org/C2989236134","wikidata":"https://www.wikidata.org/wiki/Q31207","display_name":"Patient care","level":2,"score":0.3424000144004822},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.329800009727478},{"id":"https://openalex.org/C2776291640","wikidata":"https://www.wikidata.org/wiki/Q2912517","display_name":"Value (mathematics)","level":2,"score":0.31790000200271606},{"id":"https://openalex.org/C3020442560","wikidata":"https://www.wikidata.org/wiki/Q4971815","display_name":"Broad spectrum","level":2,"score":0.31209999322891235},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.30489999055862427},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.2741999924182892},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.26269999146461487},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2581999897956848},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.25679999589920044}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004484","descriptor_name":"Ecuador","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004484","descriptor_name":"Ecuador","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004484","descriptor_name":"Ecuador","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059014","descriptor_name":"High-Throughput Nucleotide Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.5867/medwave.2026.01.3155","doi":"https://doi.org/10.5867/medwave.2026.01.3155","is_oa":true,"landing_page_url":"https://doi.org/10.5867/medwave.2026.01.3155","pdf_url":"https://www.medwave.cl/medios//investigacion/estudios/3155/medwave_2025_3155.pdf","source":{"id":"https://openalex.org/S2737451355","display_name":"Medwave","issn_l":"0717-6384","issn":["0717-6384"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310315525","host_organization_name":"Medwave Estudios Limitada","host_organization_lineage":["https://openalex.org/P4310315525"],"host_organization_lineage_names":["Medwave Estudios Limitada"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medwave","raw_type":"journal-article"},{"id":"pmid:41534036","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41534036","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medwave","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:e01c411f3f8a46088d71610b1e8f4ac6","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/e01c411f3f8a46088d71610b1e8f4ac6","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Medwave, Vol 26, Iss 01, Pp e3155-e3155 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.5867/medwave.2026.01.3155","doi":"https://doi.org/10.5867/medwave.2026.01.3155","is_oa":true,"landing_page_url":"https://doi.org/10.5867/medwave.2026.01.3155","pdf_url":"https://www.medwave.cl/medios//investigacion/estudios/3155/medwave_2025_3155.pdf","source":{"id":"https://openalex.org/S2737451355","display_name":"Medwave","issn_l":"0717-6384","issn":["0717-6384"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","ki-jl-1","medline"],"host_organization":"https://openalex.org/P4310315525","host_organization_name":"Medwave Estudios Limitada","host_organization_lineage":["https://openalex.org/P4310315525"],"host_organization_lineage_names":["Medwave Estudios Limitada"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Medwave","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7124140095.pdf","grobid_xml":"https://content.openalex.org/works/W7124140095.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":[],"abstract_inverted_index":{"Introduction:":[0],"Neurofibromatosis":[1],"type":[2],"1":[3],"(NF1)":[4],"is":[5],"a":[6,49,144,175],"multisystemic":[7],"genetic":[8],"disorder":[9],"caused":[10],"by":[11,18],"pathogenic":[12,103,145],"variants":[13,104],"in":[14,39,92,154,174],"the":[15,62,84,167,181,227],"gene,":[16],"characterized":[17],"variable":[19],"clinical":[20,56,207],"manifestations":[21,193],"such":[22,194],"as":[23,158,195],"pigmentary":[24,151,186],"abnormalities,":[25],"neurofibromas,":[26,131],"skeletal":[27],"dysplasia,":[28,129],"and":[29,66,86,110,132,169,188,199,212,226],"tumor":[30],"predisposition.":[31],"However,":[32],"genotype-phenotype":[33,224],"correlations":[34,225],"remain":[35],"insufficiently":[36],"explored,":[37],"particularly":[38],"underrepresented":[40],"populations.":[41],"Methods:":[42],"Three":[43,101],"unrelated":[44],"Ecuadorian":[45,177],"pediatric":[46,176],"patients":[47,136],"with":[48,205],"presumptive":[50],"diagnosis":[51],"of":[52,147,172,184,229],"NF1":[53,173,232],"underwent":[54],"detailed":[55],"evaluation,":[57],"next-generation":[58],"sequencing":[59],"(NGS),":[60],"using":[61,83],"TruSight":[63],"Cancer":[64],"panel,":[65],"ancestry":[67,230],"analysis":[68],"based":[69],"on":[70,231],"46":[71],"ancestry-informative":[72],"insertion-deletion":[73],"(InDel)":[74],"markers.":[75],"Variants":[76],"were":[77,105],"classified":[78],"according":[79],"to":[80,96],"ACMG/AMP":[81],"guidelines":[82],"Franklin":[85],"Variant":[87],"Interpreter":[88],"platforms,":[89],"which":[90],"incorporate":[91],"silico":[93],"prediction":[94],"tools":[95],"assess":[97],"variant":[98],"pathogenicity.":[99],"Results:":[100],"distinct":[102],"identified:":[106],"one":[107],"nonsense":[108],"(p.Arg1534Ter)":[109],"two":[111],"missense":[112],"(p.Gln20His,":[113],"p.Asp1644Asn).":[114],"Clinical":[115],"findings":[116],"included":[117],"early-onset":[118],"orbital":[119],"plexiform":[120],"neurofibroma,":[121],"multiple":[122],"caf\u00e9-au-lait":[123],"macules,":[124],"axillary/inguinal":[125],"freckling,":[126],"radial":[127,196],"bone":[128,197],"cutaneous":[130],"prepubertal":[133,200],"gynecomastia.":[134,201],"All":[135],"exhibited":[137],"predominantly":[138],"Native":[139],"American":[140],"ancestry.":[141],"analyses":[142],"predicted":[143],"classification":[146],"all":[148,155],"variants.":[149],"Early":[150],"signs,":[152],"present":[153],"cases,":[156],"served":[157],"key":[159],"diagnostic":[160,182],"indicators.":[161],"Conclusions:":[162],"This":[163],"case":[164],"series":[165],"expands":[166],"mutational":[168],"phenotypic":[170],"spectrum":[171],"cohort.":[178],"Findings":[179],"underscore":[180],"value":[183],"early":[185,206],"signs":[187],"highlight":[189],"less":[190],"commonly":[191],"reported":[192],"dysplasia":[198],"Integrating":[202],"molecular":[203],"diagnostics":[204],"evaluation":[208],"may":[209],"enable":[210],"earlier":[211],"more":[213],"precise":[214],"diagnosis,":[215],"guiding":[216],"personalized":[217],"management":[218],"strategies.":[219],"Further":[220],"studies":[221],"should":[222],"investigate":[223],"influence":[228],"expression.":[233]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2026-01-15T00:00:00"}