{"id":"https://openalex.org/W3210064965","doi":"https://doi.org/10.21037/tp-21-274","title":"Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease","display_name":"Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease","publication_year":2021,"publication_date":"2021-10-29","ids":{"openalex":"https://openalex.org/W3210064965","doi":"https://doi.org/10.21037/tp-21-274","mag":"3210064965","pmid":"https://pubmed.ncbi.nlm.nih.gov/34976777","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/8649608"},"language":"en","primary_location":{"id":"doi:10.21037/tp-21-274","doi":"https://doi.org/10.21037/tp-21-274","is_oa":true,"landing_page_url":"https://doi.org/10.21037/tp-21-274","pdf_url":"https://tp.amegroups.com/article/viewFile/82142/pdf","source":{"id":"https://openalex.org/S2764863491","display_name":"Translational Pediatrics","issn_l":"2224-4336","issn":["2224-4336","2224-4344"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321814","host_organization_name":"AME Publishing Company","host_organization_lineage":["https://openalex.org/P4310321814"],"host_organization_lineage_names":["AME Publishing Company"],"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":"Translational Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://tp.amegroups.com/article/viewFile/82142/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5100739074","display_name":"Hyejin Park","orcid":"https://orcid.org/0000-0001-6138-0092","observed_orcids":["https://orcid.org/0000-0001-6138-0092"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hyejin Park","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jinwoo Kim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jinwoo Kim","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089583488","display_name":"Sujin Choi","orcid":"https://orcid.org/0000-0001-8894-8127","observed_orcids":["https://orcid.org/0000-0001-8894-8127"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sujin Choi","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Hyo-Rim Suh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Hyo-Rim Suh","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028526982","display_name":"Jung-Eun Moon","orcid":"https://orcid.org/0000-0001-9786-7898","observed_orcids":["https://orcid.org/0000-0001-9786-7898"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Jung Eun Moon","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058778930","display_name":"Dongsub Kim","orcid":"https://orcid.org/0000-0002-9836-6769","observed_orcids":["https://orcid.org/0000-0002-9836-6769"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Dongsub Kim","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000203170","display_name":"Bong Seok Choi","orcid":"https://orcid.org/0000-0002-2129-7232","observed_orcids":["https://orcid.org/0000-0002-2129-7232"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Bong Seok Choi","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007530223","display_name":"Su\u2010Kyeong Hwang","orcid":"https://orcid.org/0000-0001-8294-7094","observed_orcids":["https://orcid.org/0000-0001-8294-7094"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Su-Kyeong Hwang","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005643424","display_name":"Ben Kang","orcid":"https://orcid.org/0000-0002-8516-9803","observed_orcids":["https://orcid.org/0000-0002-8516-9803"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Ben Kang","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5014113081","display_name":"Byung\u2010Ho Choe","orcid":"https://orcid.org/0000-0001-9899-9120","observed_orcids":["https://orcid.org/0000-0001-9899-9120"]},"institutions":[{"id":"https://openalex.org/I31419693","display_name":"Kyungpook National University","ror":"https://ror.org/040c17130","country_code":"KR","type":"education","lineage":["https://openalex.org/I31419693"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Byung-Ho Choe","raw_affiliation_strings":["Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, School of Medicine, Kyungpook National University, Daegu, Korea","institution_ids":["https://openalex.org/I31419693"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, Kyungpook National University, 680 Gukchaebosang-ro, Jung-gu, Daegu 41944, Korea","institution_ids":["https://openalex.org/I31419693"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5014113081"],"corresponding_institution_ids":["https://openalex.org/I31419693"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.2392317,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"10","issue":"11","first_page":"3104","last_page":"3109"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11412","display_name":"Genetic and Kidney Cyst 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"}}],"keywords":[{"id":"https://openalex.org/keywords/cystic-fibrosis","display_name":"cystic fibrosis","score":1.0},{"id":"https://openalex.org/keywords/cftr-gene","display_name":"CFTR gene","score":0.6589999794960022},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9549999833106995},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.652999997138977},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.5839999914169312},{"id":"https://openalex.org/keywords/inflammatory-bowel-disease","display_name":"inflammatory bowel disease","score":0.9959999918937683},{"id":"https://openalex.org/keywords/eosinophilic-gastroenteritis","display_name":"eosinophilic gastroenteritis","score":0.9980000257492065},{"id":"https://openalex.org/keywords/fecal-calprotectin","display_name":"fecal calprotectin","score":0.9259999990463257},{"id":"https://openalex.org/keywords/bronchiectasis","display_name":"bronchiectasis","score":0.890999972820282},{"id":"https://openalex.org/keywords/pancreatic-insufficiency","display_name":"pancreatic insufficiency","score":0.7879999876022339},{"id":"https://openalex.org/keywords/korean-patients","display_name":"Korean patients","score":0.46799999475479126},{"id":"https://openalex.org/keywords/pediatric-cystic-fibrosis","display_name":"pediatric cystic fibrosis","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.91690993309021},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.7835894823074341},{"id":"https://openalex.org/C2778428886","wikidata":"https://www.wikidata.org/wiki/Q420470","display_name":"Cystic fibrosis transmembrane conductance regulator","level":3,"score":0.7686073780059814},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.7298187017440796},{"id":"https://openalex.org/C2776917539","wikidata":"https://www.wikidata.org/wiki/Q1497481","display_name":"Failure to thrive","level":2,"score":0.6749970316886902},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.5243483185768127},{"id":"https://openalex.org/C2778260677","wikidata":"https://www.wikidata.org/wiki/Q917447","display_name":"Inflammatory bowel disease","level":3,"score":0.5191251635551453},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5041717290878296},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.44322431087493896},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.4249665439128876},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.40130671858787537},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3983527421951294},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.2687114477157593},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.24941208958625793},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10560557246208191},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08937236666679382},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.21037/tp-21-274","doi":"https://doi.org/10.21037/tp-21-274","is_oa":true,"landing_page_url":"https://doi.org/10.21037/tp-21-274","pdf_url":"https://tp.amegroups.com/article/viewFile/82142/pdf","source":{"id":"https://openalex.org/S2764863491","display_name":"Translational Pediatrics","issn_l":"2224-4336","issn":["2224-4336","2224-4344"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321814","host_organization_name":"AME Publishing Company","host_organization_lineage":["https://openalex.org/P4310321814"],"host_organization_lineage_names":["AME Publishing Company"],"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":"Translational Pediatrics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:8649608","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/8649608","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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Transl Pediatr","raw_type":"Text"},{"id":"pmid:34976777","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34976777","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":"Translational pediatrics","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.21037/tp-21-274","doi":"https://doi.org/10.21037/tp-21-274","is_oa":true,"landing_page_url":"https://doi.org/10.21037/tp-21-274","pdf_url":"https://tp.amegroups.com/article/viewFile/82142/pdf","source":{"id":"https://openalex.org/S2764863491","display_name":"Translational Pediatrics","issn_l":"2224-4336","issn":["2224-4336","2224-4344"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","ki-jl-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310321814","host_organization_name":"AME Publishing Company","host_organization_lineage":["https://openalex.org/P4310321814"],"host_organization_lineage_names":["AME Publishing Company"],"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":"Translational Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"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/W3210064965.pdf","grobid_xml":"https://content.openalex.org/works/W3210064965.grobid-xml"},"referenced_works_count":19,"referenced_works":["https://openalex.org/W1865242753","https://openalex.org/W1967150756","https://openalex.org/W2000642676","https://openalex.org/W2001976528","https://openalex.org/W2015289081","https://openalex.org/W2037202808","https://openalex.org/W2080427340","https://openalex.org/W2092815616","https://openalex.org/W2130444133","https://openalex.org/W2160079691","https://openalex.org/W2166776059","https://openalex.org/W2261395371","https://openalex.org/W2606185690","https://openalex.org/W2766163513","https://openalex.org/W2801609267","https://openalex.org/W2803492333","https://openalex.org/W2992043930","https://openalex.org/W2998856925","https://openalex.org/W3112602010"],"related_works":["https://openalex.org/W7097603932","https://openalex.org/W2142566437","https://openalex.org/W2163775310","https://openalex.org/W2149720421","https://openalex.org/W1509209003","https://openalex.org/W2042346670","https://openalex.org/W2946526228","https://openalex.org/W7211977230","https://openalex.org/W4403189526","https://openalex.org/W4407994024"],"abstract_inverted_index":{"The":[0,53],"prevalence":[1],"of":[2,15,18,41,65,100,113,144,153,166,207,231],"cystic":[3],"fibrosis":[4],"(CF)":[5],"is":[6,219],"considerably":[7],"lower":[8],"in":[9,25,45,172,181,212,221,227],"Asian":[10],"populations":[11],"compared":[12],"with":[13,32,84,134,214],"that":[14],"Caucasians.":[16],"Cases":[17],"CF":[19,27,44,174,218],"are":[20],"typically":[21],"due":[22],"to":[23,58,73],"mutations":[24],"the":[26,97,145,173,182,190,200,205,228],"transmembrane":[28,175],"conductance":[29,176],"regulator":[30,177],"gene":[31],"autosomal":[33],"recessive":[34],"inheritance.":[35],"Here,":[36],"we":[37],"report":[38,204],"two":[39],"cases":[40],"newly":[42],"diagnosed":[43],"Korea-a":[46],"13-year-old":[47],"boy":[48],"and":[49,63,71,80,169],"his":[50,85,101],"5-year-old":[51],"brother.":[52],"older":[54,191],"brother":[55,184],"was":[56,78,96,137,159,195],"admitted":[57],"our":[59],"hospital":[60],"for":[61],"evaluation":[62],"treatment":[64],"recurrent":[66],"abdominal":[67],"pain,":[68],"frequent":[69],"diarrhea,":[70],"failure":[72],"thrive.":[74],"Fecal":[75],"calprotectin":[76],"(FC)":[77],"elevated,":[79],"when":[81],"combining":[82],"this":[83],"clinical":[86],"presentation,":[87],"inflammatory":[88],"bowel":[89,131],"disease":[90],"(IBD)":[91],"or":[92],"eosinophilic":[93],"gastroenteritis":[94],"(EoGE)":[95],"first":[98],"impression":[99],"disease.":[102],"Several":[103],"ulcerative":[104],"lesions":[105,116],"were":[106,117,123,150,185],"observed":[107,118],"on":[108,119],"ileocolonoscopy.":[109],"However,":[110],"incidental":[111],"findings":[112,149],"suspicious":[114],"bronchiectatic":[115],"plain":[120],"radiography,":[121],"which":[122,161,198],"confirmed":[124],"by":[125,141],"chest":[126],"computed":[127,142],"tomography.":[128],"Moreover,":[129],"diffuse":[130],"wall":[132],"thickening":[133],"pancreatic":[135],"atrophy":[136],"also":[138,196],"incidentally":[139],"detected":[140],"tomography":[143],"abdomen.":[146],"Comprehensively,":[147],"these":[148],"highly":[151],"suggestive":[152],"CF.":[154],"Therefore,":[155],"diagnostic":[156],"exome":[157],"sequencing":[158],"conducted,":[160,197],"revealed":[162,199],"compound":[163],"heterozygous":[164],"variants":[165],"c.263T>G":[167],"(p.Leu88*)":[168],"c.2977G>T":[170],"(p.Asp993Tyr)":[171],"gene.":[178],"Although":[179,217],"symptoms":[180],"younger":[183],"not":[186],"as":[187,189],"prominent":[188],"brother,":[192],"genetic":[193],"test":[194],"same":[201],"mutation.":[202],"We":[203],"identification":[206],"a":[208],"novel":[209],"variant,":[210],"p.Asp993Tyr,":[211],"siblings":[213],"Korean":[215],"heritage.":[216],"rare":[220],"Koreans,":[222],"it":[223],"should":[224],"be":[225],"included":[226],"differential":[229],"diagnosis":[230],"IBD.":[232]},"counts_by_year":[],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2021-11-08T00:00:00"}
