{"id":"https://openalex.org/W3208554578","doi":"https://doi.org/10.3389/fped.2021.742830","title":"The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review","display_name":"The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review","publication_year":2021,"publication_date":"2021-10-26","ids":{"openalex":"https://openalex.org/W3208554578","doi":"https://doi.org/10.3389/fped.2021.742830","mag":"3208554578","pmid":"https://pubmed.ncbi.nlm.nih.gov/34765575","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8576358"},"language":"en","primary_location":{"id":"doi:10.3389/fped.2021.742830","doi":"https://doi.org/10.3389/fped.2021.742830","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2021.742830","pdf_url":"https://www.frontiersin.org/articles/10.3389/fped.2021.742830/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fped.2021.742830/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5078076669","display_name":"Simona Gatti","orcid":"https://orcid.org/0000-0002-5923-5213","observed_orcids":["https://orcid.org/0000-0002-5923-5213"]},"institutions":[{"id":"https://openalex.org/I122534668","display_name":"Marche Polytechnic University","ror":"https://ror.org/00x69rs40","country_code":"IT","type":"education","lineage":["https://openalex.org/I122534668"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Simona Gatti","raw_affiliation_strings":["Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy","institution_ids":["https://openalex.org/I122534668"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056501948","display_name":"Giulia Gelzoni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I122534668","display_name":"Marche Polytechnic University","ror":"https://ror.org/00x69rs40","country_code":"IT","type":"education","lineage":["https://openalex.org/I122534668"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giulia Gelzoni","raw_affiliation_strings":["Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy","institution_ids":["https://openalex.org/I122534668"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113860863","display_name":"Giulia Naspi Catassi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800330116","display_name":"Policlinico Umberto I","ror":"https://ror.org/011cabk38","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800330116"]},{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giulia N. Catassi","raw_affiliation_strings":["Department of Maternal and Child Health, Pediatric Gastroenterology and Liver Unit, Umberto I Hospital, Sapienza University of Rome, Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Maternal and Child Health, Pediatric Gastroenterology and Liver Unit, Umberto I Hospital, Sapienza University of Rome, Rome, Italy","institution_ids":["https://openalex.org/I2800330116","https://openalex.org/I861853513"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5020165539","display_name":"Carlo Catassi","orcid":"https://orcid.org/0000-0002-5727-2918","observed_orcids":["https://orcid.org/0000-0002-5727-2918"]},"institutions":[{"id":"https://openalex.org/I122534668","display_name":"Marche Polytechnic University","ror":"https://ror.org/00x69rs40","country_code":"IT","type":"education","lineage":["https://openalex.org/I122534668"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carlo Catassi","raw_affiliation_strings":["Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Polytechnic University of Marche, G. Salesi Children's Hospital, Ancona, Italy","institution_ids":["https://openalex.org/I122534668"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5078076669"],"corresponding_institution_ids":["https://openalex.org/I122534668"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":2950,"currency":"USD","value_usd":2950},"fwci":0.3239,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.3475,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":97},"biblio":{"volume":"9","issue":null,"first_page":"742830","last_page":"742830"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10134","display_name":"Inflammatory Bowel Disease","score":0.9911999702453613,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"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/T10134","display_name":"Inflammatory Bowel Disease","score":0.9911999702453613,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"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/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/inflammatory-bowel-disease","display_name":"inflammatory bowel disease","score":1.0},{"id":"https://openalex.org/keywords/genetic-syndromes","display_name":"genetic syndromes","score":0.9700000286102295},{"id":"https://openalex.org/keywords/turner-syndrome","display_name":"Turner syndrome","score":0.9449999928474426},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":1.0},{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.8849999904632568},{"id":"https://openalex.org/keywords/kabuki-syndrome","display_name":"Kabuki syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/williams-syndrome","display_name":"Williams syndrome","score":0.9959999918937683},{"id":"https://openalex.org/keywords/ibd-prevalence","display_name":"IBD prevalence","score":0.7710000276565552},{"id":"https://openalex.org/keywords/ibd-incidence","display_name":"IBD incidence","score":0.824999988079071},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.6740000247955322},{"id":"https://openalex.org/keywords/autoimmune-comorbidity","display_name":"autoimmune disease comorbidity","score":0.7360000014305115},{"id":"https://openalex.org/keywords/drug-toxicity","display_name":"drug toxicity","score":0.8889999985694885}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9084211587905884},{"id":"https://openalex.org/C2778260677","wikidata":"https://www.wikidata.org/wiki/Q917447","display_name":"Inflammatory bowel disease","level":3,"score":0.6305233836174011},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.5960621237754822},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5583968162536621},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5276222229003906},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.50138258934021},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.49991393089294434},{"id":"https://openalex.org/C2779280984","wikidata":"https://www.wikidata.org/wiki/Q1472","display_name":"Crohn's disease","level":3,"score":0.4777361750602722},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3115876317024231},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.3389/fped.2021.742830","doi":"https://doi.org/10.3389/fped.2021.742830","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2021.742830","pdf_url":"https://www.frontiersin.org/articles/10.3389/fped.2021.742830/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:7468223","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC8576358","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:8576358","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8576358","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Pediatr","raw_type":"Text"},{"id":"pmid:34765575","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34765575","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":"Frontiers in pediatrics","raw_type":"Systematic Review"},{"id":"pmh:oai:iris.univpm.it:11566/294852","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/11566/294852","pdf_url":"https://iris.univpm.it/bitstream/11566/294852/2/fped-09-742830.pdf","source":{"id":"https://openalex.org/S4306402571","display_name":"Universit\u00e0 Politecnica delle Marche (Universit\u00e0 Politecnica delle Marche)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I122534668","host_organization_name":"Marche Polytechnic University","host_organization_lineage":["https://openalex.org/I122534668"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:14e22b9a947f4187982184024ed115fd","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/14e22b9a947f4187982184024ed115fd","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":"Frontiers in Pediatrics, Vol 9 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fped.2021.742830","doi":"https://doi.org/10.3389/fped.2021.742830","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fped.2021.742830","pdf_url":"https://www.frontiersin.org/articles/10.3389/fped.2021.742830/pdf","source":{"id":"https://openalex.org/S2596117549","display_name":"Frontiers in Pediatrics","issn_l":"2296-2360","issn":["2296-2360"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/systematic-review","display_name":"Systematic Review"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3208554578.pdf","grobid_xml":"https://content.openalex.org/works/W3208554578.grobid-xml"},"referenced_works_count":96,"referenced_works":["https://openalex.org/W10563198","https://openalex.org/W65678198","https://openalex.org/W1014257459","https://openalex.org/W1500810875","https://openalex.org/W1547479957","https://openalex.org/W1570083418","https://openalex.org/W1578295353","https://openalex.org/W1804159482","https://openalex.org/W1964332464","https://openalex.org/W1975461746","https://openalex.org/W1975761813","https://openalex.org/W1976745997","https://openalex.org/W1978107718","https://openalex.org/W1978198254","https://openalex.org/W1981323855","https://openalex.org/W1990315614","https://openalex.org/W1990383358","https://openalex.org/W1994604374","https://openalex.org/W1998439888","https://openalex.org/W1999342396","https://openalex.org/W2000037756","https://openalex.org/W2003926663","https://openalex.org/W2004673767","https://openalex.org/W2005501262","https://openalex.org/W2010320290","https://openalex.org/W2016830328","https://openalex.org/W2019886362","https://openalex.org/W2021383358","https://openalex.org/W2023067951","https://openalex.org/W2024245448","https://openalex.org/W2031919315","https://openalex.org/W2033842976","https://openalex.org/W2037733089","https://openalex.org/W2040558030","https://openalex.org/W2048930707","https://openalex.org/W2053599774","https://openalex.org/W2054703528","https://openalex.org/W2054743283","https://openalex.org/W2055825597","https://openalex.org/W2056725152","https://openalex.org/W2061398371","https://openalex.org/W2071015923","https://openalex.org/W2095237073","https://openalex.org/W2100186176","https://openalex.org/W2100503210","https://openalex.org/W2100942700","https://openalex.org/W2101559006","https://openalex.org/W2103039917","https://openalex.org/W2106562283","https://openalex.org/W2107733644","https://openalex.org/W2113854451","https://openalex.org/W2116144289","https://openalex.org/W2118951857","https://openalex.org/W2121913090","https://openalex.org/W2132875715","https://openalex.org/W2134833483","https://openalex.org/W2137202814","https://openalex.org/W2143625465","https://openalex.org/W2147941530","https://openalex.org/W2156098321","https://openalex.org/W2163176957","https://openalex.org/W2169265522","https://openalex.org/W2171633154","https://openalex.org/W2291705929","https://openalex.org/W2314834806","https://openalex.org/W2376295253","https://openalex.org/W2402630038","https://openalex.org/W2405102630","https://openalex.org/W2411717979","https://openalex.org/W2428623673","https://openalex.org/W2472587036","https://openalex.org/W2545115658","https://openalex.org/W2571503386","https://openalex.org/W2579398350","https://openalex.org/W2729766479","https://openalex.org/W2739298907","https://openalex.org/W2767910653","https://openalex.org/W2794213709","https://openalex.org/W2794429631","https://openalex.org/W2929535768","https://openalex.org/W2965213702","https://openalex.org/W2966178841","https://openalex.org/W2989613938","https://openalex.org/W2999556401","https://openalex.org/W3003982949","https://openalex.org/W3004938467","https://openalex.org/W3012733389","https://openalex.org/W3022903699","https://openalex.org/W3039283550","https://openalex.org/W3092023159","https://openalex.org/W3122167423","https://openalex.org/W3127857646","https://openalex.org/W3132843993","https://openalex.org/W3213917565","https://openalex.org/W6630055028","https://openalex.org/W6677868934"],"related_works":["https://openalex.org/W4391161457","https://openalex.org/W4288855514","https://openalex.org/W3134175722","https://openalex.org/W1975461746","https://openalex.org/W3138034125","https://openalex.org/W2140331116","https://openalex.org/W1547479957","https://openalex.org/W1583820135","https://openalex.org/W1570083418","https://openalex.org/W2412808743"],"abstract_inverted_index":{"Background":[0],"and":[1,11,49,68,77,112,140,158,173,188,233,250],"Aims:Inflammatory":[2],"bowel":[3],"disease":[4],"(IBD)":[5],"is":[6,228],"a":[7,15,31,78,93,101,202,223],"typical":[8],"polygenic":[9],"disorder":[10],"less":[12],"frequently":[13],"shows":[14],"monogenic":[16],"origin.":[17],"Furthermore,":[18],"IBD":[19,44,76,89,107,165,183,198,214,227,237],"can":[20],"originate":[21],"in":[22,45,90,108,120,151,171,178,186,199,216,230,238],"the":[23,41,52,56,61,84,121,192,210,246],"context":[24],"of":[25,33,43,55,88,103,106,125,164,182,197,206,222,226,236,248],"specific":[26,46],"genetic":[27,47,79,94,110,242],"syndromes":[28,48,111],"associated":[29,128],"with":[30,75,92,129,240],"risk":[32],"autoimmune":[34],"disorders.":[35],"We":[36],"aimed":[37],"to":[38,50,60,169,176,191],"systematically":[39],"evaluate":[40],"prevalence":[42,85,163,225],"review":[51],"clinical":[53],"characteristics":[54],"published":[57],"cases.":[58],"Methods:According":[59],"Preferred":[62],"Reporting":[63],"Items":[64],"for":[65],"Systematic":[66,254],"Reviews":[67],"Meta-Analyses":[69],"(PRISMA)":[70],"guidelines,":[71],"studies":[72,82,99],"describing":[73,100],"patients":[74,239],"syndrome":[80,95,131,136,153,156,160],"and/or":[81],"indicating":[83],"or":[86],"incidence":[87,181],"subjects":[91],"were":[96,118,127,149,218],"included.":[97],"Results:Forty-six":[98],"total":[102],"67":[104],"cases":[105,117,126,148,196,215],"six":[109],"two":[113],"personally":[114],"assessed":[115],"unpublished":[116],"included":[119],"review.":[122],"The":[123,162,180],"majority":[124],"Turner":[130],"(TS)":[132],"(38":[133],"cases),":[134],"Down":[135],"(DS)":[137],"(18":[138],"cases)":[139],"neurofibromatosis":[141],"type":[142],"1":[143],"(NF1)":[144],"(8":[145],"cases).":[146],"Sporadic":[147],"described":[150,208],"DiGeorge":[152],"(2),":[154,157],"Kabuki":[155],"Williams":[159],"(1).":[161],"ranged":[166],"from":[167,174],"0.67":[168],"4%":[170],"TS":[172,187,200],"0.2":[175],"1.57%":[177],"DS.":[179],"was":[184],"increased":[185],"DS":[189,217],"compared":[190],"general":[193],"population.":[194],"Eight":[195],"had":[201],"severe/lethal":[203],"course,":[204],"many":[205],"which":[207],"before":[209],"year":[211],"2000.":[212],"Two":[213],"particularly":[219],"severe.":[220],"Conclusion:Evidence":[221],"greater":[224],"accumulating":[229],"TS,":[231],"DS,":[232],"NF1.":[234],"Management":[235],"these":[241],"conditions":[243],"should":[244],"consider":[245],"presence":[247],"comorbidities":[249],"possible":[251],"drug":[252],"toxicities.":[253],"Review":[255],"Registration:":[256],"PROSPERO,":[257],"identifier:":[258],"CRD42021249820":[259]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2021-11-08T00:00:00"}