{"id":"https://openalex.org/W2583539655","doi":"https://doi.org/10.1016/j.amjms.2017.02.001","title":"Fanconi Anemia and Laron Syndrome","display_name":"Fanconi Anemia and Laron Syndrome","publication_year":2017,"publication_date":"2017-02-04","ids":{"openalex":"https://openalex.org/W2583539655","doi":"https://doi.org/10.1016/j.amjms.2017.02.001","mag":"2583539655","pmid":"https://pubmed.ncbi.nlm.nih.gov/28502327"},"language":"en","primary_location":{"id":"doi:10.1016/j.amjms.2017.02.001","doi":"https://doi.org/10.1016/j.amjms.2017.02.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.amjms.2017.02.001","pdf_url":null,"source":{"id":"https://openalex.org/S109361689","display_name":"The American Journal of the Medical Sciences","issn_l":"0002-9629","issn":["0002-9629","1538-2990"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of the Medical Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.amjms.2017.02.001","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5065375402","display_name":"Inma Castilla\u2010Cort\u00e1zar","orcid":"https://orcid.org/0000-0002-2230-5927","observed_orcids":["https://orcid.org/0000-0002-2230-5927"]},"institutions":[{"id":"https://openalex.org/I4405267946","display_name":"Fundaci\u00f3n de Investigaci\u00f3n HM Hospitales","ror":"https://ror.org/0543ma965","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I4405267946"]},{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["ES","MX"],"is_corresponding":true,"raw_author_name":"Inma Castilla-Cortazar","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico; Fundaci\u00f3n de Investigaci\u00f3n HM Hospitales, Madrid, Spain. Electronic address: iccortazar@itesm.mx","Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","Fundaci\u00f3n de Investigaci\u00f3n HM Hospitales, Madrid, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico; Fundaci\u00f3n de Investigaci\u00f3n HM Hospitales, Madrid, Spain. Electronic address: iccortazar@itesm.mx","institution_ids":["https://openalex.org/I4405267946","https://openalex.org/I98461037"]},{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]},{"raw_affiliation_string":"Fundaci\u00f3n de Investigaci\u00f3n HM Hospitales, Madrid, Spain","institution_ids":["https://openalex.org/I4405267946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058348080","display_name":"Julieta Rodr\u00edguez-de-Ita","orcid":"https://orcid.org/0000-0002-9557-5741","observed_orcids":["https://orcid.org/0000-0002-9557-5741"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Julieta Rodriguez de Ita","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031098410","display_name":"Gabriel A. Aguirre","orcid":"https://orcid.org/0000-0003-4125-2661","observed_orcids":["https://orcid.org/0000-0003-4125-2661"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Gabriel Amador Aguirre","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022931738","display_name":"Fabiola Castorena\u2010Torres","orcid":"https://orcid.org/0000-0002-1157-0004","observed_orcids":["https://orcid.org/0000-0002-1157-0004"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Fabiola Castorena-Torres","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024381598","display_name":"Jes\u00fas Ortiz-Urbina","orcid":"https://orcid.org/0000-0001-9044-3478","observed_orcids":["https://orcid.org/0000-0001-9044-3478"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Jes\u00fas Ortiz-Urbina","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032943377","display_name":"Mariano Garc\u00eda\u2010Magari\u00f1o","orcid":"https://orcid.org/0000-0003-1970-5599","observed_orcids":["https://orcid.org/0000-0003-1970-5599"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Mariano Garc\u00eda-Magari\u00f1o","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084097598","display_name":"Roc\u00edo Garc\u00eda de la Garza","orcid":"https://orcid.org/0000-0002-0853-5822","observed_orcids":["https://orcid.org/0000-0002-0853-5822"]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Roc\u00edo Garc\u00eda de la Garza","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007604763","display_name":"Carlos D\u00edaz Olachea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Carlos Diaz Olachea","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112330688","display_name":"Martha I. Elizondo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I98461037","display_name":"Tecnol\u00f3gico de Monterrey","ror":"https://ror.org/03ayjn504","country_code":"MX","type":"education","lineage":["https://openalex.org/I98461037"]}],"countries":["MX"],"is_corresponding":false,"raw_author_name":"Martha Irma Elizondo Leal","raw_affiliation_strings":["Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Escuela de Medicina, Tecnologico de Monterrey, Monterrey, Nuevo Leon, Mexico","institution_ids":["https://openalex.org/I98461037"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5065375402"],"corresponding_institution_ids":["https://openalex.org/I4405267946","https://openalex.org/I98461037"],"apc_list":{"value":2940,"currency":"USD","value_usd":2940},"apc_paid":{"value":2940,"currency":"USD","value_usd":2940},"fwci":0.648,"has_fulltext":false,"cited_by_count":8,"citation_normalized_percentile":{"value":0.71043494,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"353","issue":"5","first_page":"425","last_page":"432"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T12919","display_name":"Blood disorders and treatments","score":9.999999747378752e-05,"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/T11642","display_name":"Genomics and Rare Diseases","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fanconi-anemia","display_name":"Fanconi anemia","score":1.0},{"id":"https://openalex.org/keywords/laron-syndrome","display_name":"Laron syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/growth-hormone-deficiency","display_name":"growth hormone deficiency","score":0.7770000100135803},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9470000267028809},{"id":"https://openalex.org/keywords/igf-binding-protein-3","display_name":"IGF binding protein-3","score":0.8690000176429749},{"id":"https://openalex.org/keywords/genomic-instability","display_name":"genomic instability","score":0.75},{"id":"https://openalex.org/keywords/igf-1-therapy","display_name":"IGF-1 therapy","score":0.746999979019165}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7623066902160645},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.7316296696662903},{"id":"https://openalex.org/C2778124228","wikidata":"https://www.wikidata.org/wiki/Q845779","display_name":"Fanconi anemia","level":4,"score":0.6487232446670532},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5881669521331787},{"id":"https://openalex.org/C2779703530","wikidata":"https://www.wikidata.org/wiki/Q837174","display_name":"Erythropoiesis","level":3,"score":0.5836963653564453},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5746940970420837},{"id":"https://openalex.org/C2775960820","wikidata":"https://www.wikidata.org/wiki/Q408378","display_name":"Growth factor","level":3,"score":0.4327365458011627},{"id":"https://openalex.org/C188082640","wikidata":"https://www.wikidata.org/wiki/Q1780899","display_name":"Complementation","level":4,"score":0.42349761724472046},{"id":"https://openalex.org/C24998067","wikidata":"https://www.wikidata.org/wiki/Q4114622","display_name":"Stimulation","level":2,"score":0.42031654715538025},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3997228741645813},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.38312074542045593},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.3655247986316681},{"id":"https://openalex.org/C2778248108","wikidata":"https://www.wikidata.org/wiki/Q5445","display_name":"Anemia","level":2,"score":0.35770490765571594},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20160776376724243},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1859925389289856},{"id":"https://openalex.org/C134935766","wikidata":"https://www.wikidata.org/wiki/Q210538","display_name":"DNA repair","level":3,"score":0.10137146711349487}],"mesh":[{"descriptor_ui":"D001827","descriptor_name":"Body Height","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D005199","descriptor_name":"Fanconi Anemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007334","descriptor_name":"Insulin-Like Growth Factor I","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008800","descriptor_name":"Mexico","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011986","descriptor_name":"Receptors, Somatotropin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015398","descriptor_name":"Signal Transduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018972","descriptor_name":"Insulin-Like Growth Factor Binding Protein 3","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D019382","descriptor_name":"Human Growth Hormone","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D046150","descriptor_name":"Laron Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D046150","descriptor_name":"Laron Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D046150","descriptor_name":"Laron Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/j.amjms.2017.02.001","doi":"https://doi.org/10.1016/j.amjms.2017.02.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.amjms.2017.02.001","pdf_url":null,"source":{"id":"https://openalex.org/S109361689","display_name":"The American Journal of the Medical Sciences","issn_l":"0002-9629","issn":["0002-9629","1538-2990"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of the Medical Sciences","raw_type":"journal-article"},{"id":"pmid:28502327","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28502327","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":"The American journal of the medical sciences","raw_type":"Case Reports"},{"id":"pmh:oai:repositorio.itesm.mx:11285/630333","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11285/630333","pdf_url":null,"source":{"id":"https://openalex.org/S4306401729","display_name":"Institutional Repository of Tecnol\u00f3gico de Monterrey (Tecnol\u00f3gico de Monterrey)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I98461037","host_organization_name":"Tecnol\u00f3gico de Monterrey","host_organization_lineage":["https://openalex.org/I98461037"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of the Medical Sciences","raw_type":"Art\u00edculo"}],"best_oa_location":{"id":"doi:10.1016/j.amjms.2017.02.001","doi":"https://doi.org/10.1016/j.amjms.2017.02.001","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.amjms.2017.02.001","pdf_url":null,"source":{"id":"https://openalex.org/S109361689","display_name":"The American Journal of the Medical Sciences","issn_l":"0002-9629","issn":["0002-9629","1538-2990"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The American Journal of the Medical Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":47,"referenced_works":["https://openalex.org/W1494826070","https://openalex.org/W1505703709","https://openalex.org/W1965176171","https://openalex.org/W1974545699","https://openalex.org/W1976629892","https://openalex.org/W1982055735","https://openalex.org/W1984828633","https://openalex.org/W1987948347","https://openalex.org/W2000067413","https://openalex.org/W2000480976","https://openalex.org/W2001907020","https://openalex.org/W2002415366","https://openalex.org/W2011054563","https://openalex.org/W2018750576","https://openalex.org/W2021365471","https://openalex.org/W2030788402","https://openalex.org/W2031758000","https://openalex.org/W2041017270","https://openalex.org/W2044118778","https://openalex.org/W2060043372","https://openalex.org/W2067420381","https://openalex.org/W2071705067","https://openalex.org/W2078860085","https://openalex.org/W2090079954","https://openalex.org/W2097634369","https://openalex.org/W2114038753","https://openalex.org/W2114907977","https://openalex.org/W2120634497","https://openalex.org/W2127366415","https://openalex.org/W2128667978","https://openalex.org/W2130930413","https://openalex.org/W2131238717","https://openalex.org/W2134071049","https://openalex.org/W2137494073","https://openalex.org/W2137796641","https://openalex.org/W2139532571","https://openalex.org/W2150752608","https://openalex.org/W2157247721","https://openalex.org/W2168104423","https://openalex.org/W2171928951","https://openalex.org/W2200739154","https://openalex.org/W2216067749","https://openalex.org/W2259739369","https://openalex.org/W2478888756","https://openalex.org/W2758462881","https://openalex.org/W4241725533","https://openalex.org/W6692435920"],"related_works":["https://openalex.org/W1987948347","https://openalex.org/W2066919421","https://openalex.org/W2965951980","https://openalex.org/W2047382512","https://openalex.org/W1966559337","https://openalex.org/W2030788402","https://openalex.org/W2412722659","https://openalex.org/W3034604254","https://openalex.org/W3165768963","https://openalex.org/W2403194126"],"abstract_inverted_index":{"BACKGROUND:":[0],"Fanconi":[1],"anemia":[2],"(FA)":[3],"is":[4,15,186],"a":[5,66,93,110,120,125,160,169],"condition":[6],"characterized":[7],"by":[8],"genetic":[9,67],"instability":[10],"and":[11,37,49,102,109,132,147,195,207,218,227],"short":[12,82],"stature,":[13],"which":[14],"due":[16],"to":[17,73,86,92,164,189],"growth":[18,54],"hormone":[19],"(GH)":[20],"deficiency":[21],"in":[22,135,171,215],"most":[23],"cases.":[24],"However,":[25],"no":[26],"apparent":[27],"relationships":[28],"have":[29],"been":[30],"identified":[31],"between":[32,47,193],"FA":[33,48,70,129,194,205],"complementation":[34],"group":[35],"genes":[36,133],"GH.":[38],"In":[39,116],"this":[40,184],"study,":[41],"we":[42,118],"thereby":[43],"considered":[44],"an":[45,78,191],"association":[46,192],"Laron":[50],"syndrome":[51],"(LS)":[52],"(insulin-like":[53],"factor":[55],"1":[56],"[IGF-1]":[57],"deficiency).":[58],"METHODS:":[59],"A":[60],"21-year-old":[61],"female":[62],"Mexican":[63],"patient":[64],"with":[65],"diagnosis":[68],"of":[69,80,95,100,128,145,162,181],"was":[71,114],"referred":[72],"our":[74,87,182],"research":[75],"department":[76],"for":[77,124],"evaluation":[79,127],"her":[81,89],"stature.":[83],"Upon":[84],"admission":[85],"facility,":[88],"phenotype":[90],"led":[91],"suspicion":[94],"LS;":[96],"accordingly,":[97],"serum":[98],"levels":[99,144],"IGF-1":[101,146,200,211],"IGF":[103,148],"binding":[104,149],"protein":[105,150],"3":[106,151],"were":[107],"analyzed":[108],"GH":[111,165,173],"stimulation":[112],"test":[113],"performed.":[115],"addition,":[117],"used":[119],"next-generation":[121],"sequencing":[122],"approach":[123],"molecular":[126],"disease-causing":[130],"mutations":[131],"involved":[134],"the":[136,172,179,187],"GH-IGF":[137],"signaling":[138,175],"pathway.":[139,176],"RESULTS:":[140],"Tests":[141],"revealed":[142],"low":[143],"that":[152,199],"remained":[153],"within":[154],"normal":[155],"ranges,":[156],"as":[157,159],"well":[158],"lack":[161],"response":[163],"stimulation.":[166],"Sequencing":[167],"confirmed":[168],"defect":[170],"receptor":[174],"CONCLUSIONS:":[177],"To":[178],"best":[180],"knowledge,":[183],"study":[185],"first":[188],"suggest":[190],"LS.":[196],"We":[197],"propose":[198],"administration":[201],"might":[202],"improve":[203],"some":[204],"complications":[206],"functions":[208],"based":[209],"upon":[210],"beneficial":[212],"actions":[213],"observed":[214],"animal,":[216],"cell":[217],"indirect":[219],"clinical":[220],"models:":[221],"erythropoiesis":[222],"modulation,":[223],"immune":[224],"function":[225],"improvement":[226],"metabolic":[228],"regulation.":[229]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2017-02-10T00:00:00"}