{"id":"https://openalex.org/W7223997359","doi":"https://doi.org/10.3390/ijms27219551","title":"Hereditary Angioedema with Normal C1-Inhibitor in Children: Diagnostic Challenges, Novel Mutations in MYOF, F12, and HS3ST6, and the Role of Bioinformatics Analysis","display_name":"Hereditary Angioedema with Normal C1-Inhibitor in Children: Diagnostic Challenges, Novel Mutations in MYOF, F12, and HS3ST6, and the Role of Bioinformatics Analysis","publication_year":2026,"publication_date":"2026-10-26","ids":{"openalex":"https://openalex.org/W7223997359","doi":"https://doi.org/10.3390/ijms27219551"},"language":"en","primary_location":{"id":"doi:10.3390/ijms27219551","doi":"https://doi.org/10.3390/ijms27219551","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27219551","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3390/ijms27219551","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5032095776","display_name":"\u0414\u0435\u043d\u0438\u0441\u043e\u0432\u0430 \u0410\u043d\u0438\u0442\u0430 \u0420\u043e\u0431\u0435\u0440\u0442\u043e\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0003-0917-6048","observed_orcids":["https://orcid.org/0000-0003-0917-6048"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Anita R. Denisova","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087389883","display_name":"Natalia G. Kolosova","orcid":"https://orcid.org/0000-0001-5071-9302","observed_orcids":["https://orcid.org/0000-0001-5071-9302"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Natalia G. Kolosova","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015744296","display_name":"Natalia Anatolievna Geppe","orcid":"https://orcid.org/0000-0003-0547-3686","observed_orcids":["https://orcid.org/0000-0003-0547-3686"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Natalia A. Geppe","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":"https://orcid.org/0000-0003-0547-3686","affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035424634","display_name":"\u0414\u0435\u043d\u0438\u0441\u043e\u0432\u0430 \u0412\u0435\u0440\u043e\u043d\u0438\u043a\u0430 \u0414\u043c\u0438\u0442\u0440\u0438\u0435\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0002-4033-6380","observed_orcids":["https://orcid.org/0000-0002-4033-6380"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Veronika D. Denisova","raw_affiliation_strings":["Department of Propaedeutics of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region, Moscow 141009, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Propaedeutics of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region, Moscow 141009, Russia","institution_ids":["https://openalex.org/I4210117042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060818585","display_name":"Vera A. Podzolkova","orcid":"https://orcid.org/0000-0002-0701-5956","observed_orcids":["https://orcid.org/0000-0002-0701-5956"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":true,"raw_author_name":"Vera A. Podzolkova","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057402367","display_name":"Irina V. Ozerskaia","orcid":"https://orcid.org/0000-0001-6062-5334","observed_orcids":["https://orcid.org/0000-0001-6062-5334"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Irina V. Ozerskaia","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":"https://orcid.org/0000-0001-6062-5334","affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051637808","display_name":"\u0428\u0430\u0442\u0430\u043b\u0438\u043d\u0430 \u0421\u0432\u0435\u0442\u043b\u0430\u043d\u0430 \u0418\u0433\u043e\u0440\u0435\u0432\u043d\u0430","orcid":"https://orcid.org/0000-0003-2085-0021","observed_orcids":["https://orcid.org/0000-0003-2085-0021"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]},{"id":"https://openalex.org/I4210117042","display_name":"Ministry of Health of the Russian Federation","ror":"https://ror.org/01p8ehb87","country_code":"RU","type":"government","lineage":["https://openalex.org/I4210117042"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Svetlana I. Shatalina","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region, Moscow 141009, Russia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]},{"raw_affiliation_string":"Research Clinical Institute of Childhood of the Ministry of Health of the Moscow Region, Moscow 141009, Russia","institution_ids":["https://openalex.org/I4210117042"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011829973","display_name":"M. D. Shakhnazarova","orcid":"https://orcid.org/0000-0003-3512-5455","observed_orcids":["https://orcid.org/0000-0003-3512-5455"]},"institutions":[{"id":"https://openalex.org/I17877952","display_name":"Sechenov University","ror":"https://ror.org/02yqqv993","country_code":"RU","type":"education","lineage":["https://openalex.org/I17877952"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Marina D. Shakhnazarova","raw_affiliation_strings":["Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia"],"raw_orcid":"https://orcid.org/0000-0003-3512-5455","affiliations":[{"raw_affiliation_string":"Department of Children\u2019s Diseases, N.F. Filatov Clinical Institute of Children\u2019s Health, Sechenov First Moscow State Medical University, Moscow 119435, Russia","institution_ids":["https://openalex.org/I17877952"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067379892","display_name":"Yu. V. Ostankova","orcid":"https://orcid.org/0000-0003-2270-8897","observed_orcids":["https://orcid.org/0000-0003-2270-8897"]},"institutions":[{"id":"https://openalex.org/I4210101453","display_name":"Saint Petersburg Pasteur Institute","ror":"https://ror.org/00kcctq66","country_code":"RU","type":"nonprofit","lineage":["https://openalex.org/I4210101453"]}],"countries":["RU"],"is_corresponding":false,"raw_author_name":"Yulia V. Ostankova","raw_affiliation_strings":["Saint Petersburg Pasteur Institute, 14 Mira St., Saint Petersburg 197101, Russia"],"raw_orcid":"https://orcid.org/0000-0003-2270-8897","affiliations":[{"raw_affiliation_string":"Saint Petersburg Pasteur Institute, 14 Mira St., Saint Petersburg 197101, Russia","institution_ids":["https://openalex.org/I4210101453"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081336612","display_name":"\u041d\u0430\u0434\u0435\u0436\u0434\u0430 \u0410\u043b\u0435\u043a\u0441\u0430\u043d\u0434\u0440\u043e\u0432\u043d\u0430 \u041f\u0435\u0447\u043d\u0438\u043a\u043e\u0432\u0430","orcid":"https://orcid.org/0000-0002-3485-8545","observed_orcids":["https://orcid.org/0000-0002-3485-8545"]},"institutions":[{"id":"https://openalex.org/I21370196","display_name":"Aristotle University of Thessaloniki","ror":"https://ror.org/02j61yw88","country_code":"GR","type":"education","lineage":["https://openalex.org/I21370196"]},{"id":"https://openalex.org/I4210101453","display_name":"Saint Petersburg Pasteur Institute","ror":"https://ror.org/00kcctq66","country_code":"RU","type":"nonprofit","lineage":["https://openalex.org/I4210101453"]}],"countries":["GR","RU"],"is_corresponding":true,"raw_author_name":"Nadezhda A. Pechnikova","raw_affiliation_strings":["Elpida BioPharm P.C., 54636 Thessaloniki, Greece","Laboratory of Chemical Engineering A\u2019, Department of Chemical Engineering, Faculty of Engineering, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece","Saint Petersburg Pasteur Institute, 14 Mira St., Saint Petersburg 197101, Russia"],"raw_orcid":"https://orcid.org/0000-0002-3485-8545","affiliations":[{"raw_affiliation_string":"Elpida BioPharm P.C., 54636 Thessaloniki, Greece","institution_ids":[]},{"raw_affiliation_string":"Laboratory of Chemical Engineering A\u2019, Department of Chemical Engineering, Faculty of Engineering, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece","institution_ids":["https://openalex.org/I21370196"]},{"raw_affiliation_string":"Saint Petersburg Pasteur Institute, 14 Mira St., Saint Petersburg 197101, Russia","institution_ids":["https://openalex.org/I4210101453"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5060818585","https://openalex.org/A5081336612"],"corresponding_institution_ids":["https://openalex.org/I17877952","https://openalex.org/I21370196","https://openalex.org/I4210101453"],"apc_list":{"value":2900,"currency":"CHF","value_usd":3499},"apc_paid":{"value":2900,"currency":"CHF","value_usd":3499},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.84204455,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"27","issue":"21","first_page":"9551","last_page":"9551"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11310","display_name":"Connective tissue disorders research","score":0.0003000000142492354,"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":0.0003000000142492354,"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/hereditary-angioedema-with-normal-c1-inhibitor","display_name":"hereditary angioedema with normal C1 inhibitor","score":0.9620000123977661},{"id":"https://openalex.org/keywords/myoferlin","display_name":"myoferlin","score":0.5400000214576721},{"id":"https://openalex.org/keywords/f12","display_name":"F12","score":0.9490000009536743},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.6050000190734863},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.7960000038146973},{"id":"https://openalex.org/keywords/variant-pathogenicity-prediction","display_name":"variant pathogenicity prediction","score":0.6299999952316284},{"id":"https://openalex.org/keywords/c1-inhibitor","display_name":"C1 inhibitor","score":0.45100000500679016},{"id":"https://openalex.org/keywords/c4","display_name":"C4","score":0.5120000243186951}],"concepts":[{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6694999933242798},{"id":"https://openalex.org/C2777788586","wikidata":"https://www.wikidata.org/wiki/Q2096745","display_name":"Hereditary angioedema","level":2,"score":0.6409000158309937},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.6407999992370605},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5692999958992004},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.5281000137329102},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.4429999887943268},{"id":"https://openalex.org/C2779931649","wikidata":"https://www.wikidata.org/wiki/Q416510","display_name":"C1-inhibitor","level":3,"score":0.40059998631477356},{"id":"https://openalex.org/C2777995640","wikidata":"https://www.wikidata.org/wiki/Q1129007","display_name":"Angioedema","level":2,"score":0.3885999917984009},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.36329999566078186},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.3621000051498413},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3605000078678131},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.35749998688697815},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.3456000089645386},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3393999934196472},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.3305000066757202},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.32679998874664307},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.2994000017642975},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.296099990606308},{"id":"https://openalex.org/C2777615720","wikidata":"https://www.wikidata.org/wiki/Q11888847","display_name":"Prioritization","level":2,"score":0.2930999994277954},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.2824999988079071},{"id":"https://openalex.org/C2993967602","wikidata":"https://www.wikidata.org/wiki/Q5532932","display_name":"Genetic variants","level":4,"score":0.2786000072956085},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2736999988555908},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.26899999380111694},{"id":"https://openalex.org/C82157600","wikidata":"https://www.wikidata.org/wiki/Q2671652","display_name":"Diagnostic test","level":2,"score":0.2671999931335449},{"id":"https://openalex.org/C161078062","wikidata":"https://www.wikidata.org/wiki/Q1068690","display_name":"Functional genomics","level":5,"score":0.2646999955177307},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.25189998745918274}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.3390/ijms27219551","doi":"https://doi.org/10.3390/ijms27219551","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27219551","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.3390/ijms27219551","doi":"https://doi.org/10.3390/ijms27219551","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms27219551","pdf_url":null,"source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":45,"referenced_works":["https://openalex.org/W1900104791","https://openalex.org/W2051978340","https://openalex.org/W2059145105","https://openalex.org/W2064488723","https://openalex.org/W2089335658","https://openalex.org/W2112480941","https://openalex.org/W2128995100","https://openalex.org/W2136513422","https://openalex.org/W2376573086","https://openalex.org/W2401241322","https://openalex.org/W2983394854","https://openalex.org/W3035373195","https://openalex.org/W3104285666","https://openalex.org/W3110917833","https://openalex.org/W3117622225","https://openalex.org/W3121164637","https://openalex.org/W3177828909","https://openalex.org/W4225320237","https://openalex.org/W4237288619","https://openalex.org/W4290804144","https://openalex.org/W4308616064","https://openalex.org/W4308834893","https://openalex.org/W4378085407","https://openalex.org/W4378640002","https://openalex.org/W4391232231","https://openalex.org/W4391431628","https://openalex.org/W4399243827","https://openalex.org/W4399352796","https://openalex.org/W4400423407","https://openalex.org/W4400863624","https://openalex.org/W4403560518","https://openalex.org/W4404458588","https://openalex.org/W4405242253","https://openalex.org/W4406499157","https://openalex.org/W4407942260","https://openalex.org/W4408019544","https://openalex.org/W4408231652","https://openalex.org/W4408240162","https://openalex.org/W4413113570","https://openalex.org/W4413471185","https://openalex.org/W4414300823","https://openalex.org/W4417077103","https://openalex.org/W4417237853","https://openalex.org/W7126243388","https://openalex.org/W7139114363"],"related_works":["https://openalex.org/W4413471185","https://openalex.org/W3131257751","https://openalex.org/W4393342828","https://openalex.org/W7117300201","https://openalex.org/W4313333978","https://openalex.org/W3093894651","https://openalex.org/W2791160582","https://openalex.org/W4284692383","https://openalex.org/W1977141465","https://openalex.org/W3163724945"],"abstract_inverted_index":{"Hereditary":[0],"angioedema":[1],"with":[2,33,79,152],"normal":[3,37],"C1":[4,40],"inhibitor":[5,41],"(HAE-nC1INH)":[6],"lacks":[7],"validated":[8],"biochemical":[9],"biomarkers,":[10],"complicating":[11],"diagnosis":[12],"and":[13,39,43,74,100,148],"interpretation":[14],"of":[15,26,60,125,133,145,154],"rare":[16,64],"genetic":[17],"variants,":[18],"particularly":[19],"in":[20,57,71,91,116,156],"children.":[21],"To":[22],"improve":[23],"molecular":[24,143],"characterization":[25],"pediatric":[27,146],"HAE-nC1INH,":[28],"we":[29],"studied":[30],"23":[31,49],"children":[32],"recurrent":[34],"non-histaminergic":[35],"angioedema,":[36],"C4":[38],"levels,":[42],"no":[44],"pathogenic":[45],"SERPING1":[46],"variants.":[47,62],"All":[48],"patients":[50],"underwent":[51],"whole-exome":[52],"sequencing,":[53],"followed":[54],"by":[55],"integrated":[56],"silico":[58],"assessment":[59],"candidate":[61],"A":[63],"heterozygous":[65],"MYOF":[66],"p.Arg1590Gln":[67],"variant":[68],"was":[69,89],"identified":[70,90],"one":[72],"patient":[73],"classified":[75],"as":[76],"a":[77,107],"VUS,":[78],"computational":[80,123],"analyses":[81],"suggesting":[82],"potential":[83,126],"functional":[84,127],"relevance.":[85],"Homozygous":[86],"F12":[87],"p.Ala207Pro":[88],"two":[92],"unrelated":[93],"patients;":[94,118],"however,":[95],"its":[96],"high":[97],"population":[98],"frequency":[99],"benign":[101],"ClinVar":[102],"classification":[103],"do":[104],"not":[105],"support":[106,149],"causative":[108],"role.":[109],"Four":[110],"HS3ST6":[111],"missense":[112],"variants":[113,136,155],"were":[114],"detected":[115],"five":[117],"p.Pro199Leu":[119],"showed":[120],"the":[121,130,134,142],"strongest":[122],"evidence":[124],"relevance,":[128],"whereas":[129],"clinical":[131,167],"significance":[132],"remaining":[135],"remains":[137],"uncertain.":[138],"These":[139],"findings":[140],"expand":[141],"spectrum":[144],"HAE-nC1INH":[147],"combining":[150],"sequencing":[151],"prioritization":[153],"relevant":[157],"genes.":[158],"Functional":[159],"studies":[160],"are":[161],"required":[162],"to":[163],"confirm":[164],"causality":[165],"before":[166],"implementation.":[168]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-10-28T00:00:00"}
