{"id":"https://openalex.org/W2102441981","doi":"https://doi.org/10.1210/jc.2004-0494","title":"Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-\u03b2 Gene: Phenotypic Variability and Founder Effect","display_name":"Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-\u03b2 Gene: Phenotypic Variability and Founder Effect","publication_year":2004,"publication_date":"2004-08-01","ids":{"openalex":"https://openalex.org/W2102441981","doi":"https://doi.org/10.1210/jc.2004-0494","mag":"2102441981","pmid":"https://pubmed.ncbi.nlm.nih.gov/15292359"},"language":"en","primary_location":{"id":"doi:10.1210/jc.2004-0494","doi":"https://doi.org/10.1210/jc.2004-0494","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2004-0494","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology & Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5056277353","display_name":"Guntram Borck","orcid":"https://orcid.org/0000-0003-2279-8052","observed_orcids":["https://orcid.org/0000-0003-2279-8052"]},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210086369","display_name":"Institut Necker Enfants Malades","ror":"https://ror.org/000nhq538","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210086369","https://openalex.org/I4210096427"]},{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE","FR"],"is_corresponding":false,"raw_author_name":"Guntram Borck","raw_affiliation_strings":["Children's Hospital of the Johannes Gutenberg University, Mainz, Germany","Children's Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany","Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U393 (G.B.), Hopital Necker-Enfants Malades, F-75015 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital of the Johannes Gutenberg University, Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]},{"raw_affiliation_string":"Children's Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]},{"raw_affiliation_string":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U393 (G.B.), Hopital Necker-Enfants Malades, F-75015 Paris, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I154526488","https://openalex.org/I4210086369"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017750258","display_name":"Ali Kemal Topaloglu","orcid":"https://orcid.org/0000-0003-2931-9552","observed_orcids":["https://orcid.org/0000-0003-2931-9552"]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"A. Kemal Topaloglu","raw_affiliation_strings":["Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey","institution_ids":["https://openalex.org/I55931168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046070602","display_name":"Eckhard Korsch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eckhard Korsch","raw_affiliation_strings":["Children\u2019s Hospital Amsterdamer Strasse (E.K.), D-50735 Ko\u0308ln, Germany","Children's Hospital Amsterdamer Strasse (E.K.), D-50735 K\u00f6ln, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital Amsterdamer Strasse (E.K.), D-50735 Ko\u0308ln, Germany","institution_ids":[]},{"raw_affiliation_string":"Children's Hospital Amsterdamer Strasse (E.K.), D-50735 K\u00f6ln, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087850063","display_name":"Ursula Martin\u00e9","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Ursula Martin\u00e9","raw_affiliation_strings":["Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111722624","display_name":"Gabriele Wildhardt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Gabriele Wildhardt","raw_affiliation_strings":["Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043252737","display_name":"Neslihan \u00d6nenli Mungan","orcid":"https://orcid.org/0000-0001-7862-3038","observed_orcids":["https://orcid.org/0000-0001-7862-3038"]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Neslihan Onenli-Mungan","raw_affiliation_strings":["Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey","institution_ids":["https://openalex.org/I55931168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048435143","display_name":"Bilgin Y\u00fcksel","orcid":"https://orcid.org/0000-0003-4378-3255","observed_orcids":["https://orcid.org/0000-0003-4378-3255","https://orcid.org/0000-0002-9753-381X"]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Bilgin Yuksel","raw_affiliation_strings":["Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey","institution_ids":["https://openalex.org/I55931168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056134308","display_name":"Ulrich Aumann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ulrich Aumann","raw_affiliation_strings":["Kinderklinik des Allgemeinen Krankenhauses Hagen GmbH (U.A., G.K.), D-58095 Hagen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kinderklinik des Allgemeinen Krankenhauses Hagen GmbH (U.A., G.K.), D-58095 Hagen, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"Gerhard Koch","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gerhard Koch","raw_affiliation_strings":["Kinderklinik des Allgemeinen Krankenhauses Hagen GmbH (U.A., G.K.), D-58095 Hagen, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kinderklinik des Allgemeinen Krankenhauses Hagen GmbH (U.A., G.K.), D-58095 Hagen, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111943940","display_name":"G\u00fcler \u00d6zer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55931168","display_name":"Cukurova University","ror":"https://ror.org/05wxkj555","country_code":"TR","type":"education","lineage":["https://openalex.org/I55931168"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Guler Ozer","raw_affiliation_strings":["Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology and Metabolism (A.K.T., N.O.-M., B.Y., G.O.), Cukurova University, Faculty of Medicine, TR-01330 Adana, Turkey","institution_ids":["https://openalex.org/I55931168"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055762191","display_name":"Roland Werner Pf\u00e4ffle","orcid":"https://orcid.org/0000-0001-6754-3681","observed_orcids":["https://orcid.org/0000-0001-6754-3681"]},"institutions":[{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Roland Pf\u00e4ffle","raw_affiliation_strings":["Children's Hospital (R.P.), University of Leipzig, D-04103 Leipzig, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital (R.P.), University of Leipzig, D-04103 Leipzig, Germany","institution_ids":["https://openalex.org/I926574661"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035532317","display_name":"Neal H. Scherberg","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Neal H. Scherberg","raw_affiliation_strings":["Departments of Medicine (N.H.S., S.R.), Chicago, Illinois 60637"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Medicine (N.H.S., S.R.), Chicago, Illinois 60637","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038183050","display_name":"Samuel Refetoff","orcid":"https://orcid.org/0000-0003-0164-8231","observed_orcids":["https://orcid.org/0000-0003-0164-8231"]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samuel Refetoff","raw_affiliation_strings":["Committee on Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637","Departments of Medicine (N.H.S., S.R.), Chicago, Illinois 60637","Pediatrics (S.R.), Chicago, Illinois 60637"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Committee on Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637","institution_ids":["https://openalex.org/I40347166"]},{"raw_affiliation_string":"Departments of Medicine (N.H.S., S.R.), Chicago, Illinois 60637","institution_ids":[]},{"raw_affiliation_string":"Pediatrics (S.R.), Chicago, Illinois 60637","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079486260","display_name":"Joachim Pohlenz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210094062","display_name":"University Medical Center of the Johannes Gutenberg University Mainz","ror":"https://ror.org/00q1fsf04","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210094062"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Joachim Pohlenz","raw_affiliation_strings":["Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children\u2019s Hospital of the Johannes Gutenberg University (G.B., U.M., G.W., J.P.), D-55101 Mainz, Germany","institution_ids":["https://openalex.org/I4210094062"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5079486260"],"corresponding_institution_ids":["https://openalex.org/I4210094062"],"apc_list":{"value":3750,"currency":"USD","value_usd":3750},"apc_paid":null,"fwci":0.6453,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.72314566,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"89","issue":"8","first_page":"4136","last_page":"4141"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10293","display_name":"Thyroid Disorders and Treatments","score":0.98580002784729,"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/T10293","display_name":"Thyroid Disorders and Treatments","score":0.98580002784729,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.007699999958276749,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/splice-site-variant","display_name":"splice site mutation","score":0.9440000057220459},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.6859999895095825},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.8809999823570251},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.656000018119812},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.7609999775886536},{"id":"https://openalex.org/keywords/turkish-families","display_name":"Turkish families","score":0.5199999809265137},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.6510000228881836}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6584237217903137},{"id":"https://openalex.org/C2779258352","wikidata":"https://www.wikidata.org/wiki/Q531012","display_name":"Congenital hypothyroidism","level":3,"score":0.6531593203544617},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.6215958595275879},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.6040082573890686},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.5772624015808105},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5622887015342712},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5123761892318726},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5055828094482422},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.5049391388893127},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.46941813826560974},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.45805323123931885},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.42128047347068787},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4183975160121918},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2864699363708496},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2658153176307678},{"id":"https://openalex.org/C526584372","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Thyroid","level":2,"score":0.18222501873970032},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.12022408843040466}],"mesh":[{"descriptor_ui":"D000225","descriptor_name":"Adenine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003409","descriptor_name":"Congenital Hypothyroidism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006147","descriptor_name":"Guanine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D007037","descriptor_name":"Hypothyroidism","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D007037","descriptor_name":"Hypothyroidism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013972","descriptor_name":"Thyrotropin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D037322","descriptor_name":"Thyrotropin, beta Subunit","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1210/jc.2004-0494","doi":"https://doi.org/10.1210/jc.2004-0494","is_oa":false,"landing_page_url":"https://doi.org/10.1210/jc.2004-0494","pdf_url":null,"source":{"id":"https://openalex.org/S205775358","display_name":"The Journal of Clinical Endocrinology & Metabolism","issn_l":"0021-972X","issn":["0021-972X","1945-7197"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Clinical Endocrinology & Metabolism","raw_type":"journal-article"},{"id":"pmid:15292359","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15292359","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 Journal of clinical endocrinology and metabolism","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[{"id":"https://openalex.org/G1164413914","display_name":null,"funder_award_id":"DK 15070","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"},{"id":"https://openalex.org/G1942971473","display_name":null,"funder_award_id":"DK 00055","funder_id":"https://openalex.org/F4320337357","funder_display_name":"National Institute of Diabetes and Digestive and Kidney Diseases"}],"funders":[{"id":"https://openalex.org/F4320337357","display_name":"National Institute of Diabetes and Digestive and Kidney Diseases","ror":"https://ror.org/00adh9b73"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W594580487","https://openalex.org/W1563807045","https://openalex.org/W1580274923","https://openalex.org/W1889842255","https://openalex.org/W1964789473","https://openalex.org/W1965265115","https://openalex.org/W1976457107","https://openalex.org/W1984504272","https://openalex.org/W1985247215","https://openalex.org/W1989118262","https://openalex.org/W1997168010","https://openalex.org/W1997631749","https://openalex.org/W2000265945","https://openalex.org/W2001409059","https://openalex.org/W2022991242","https://openalex.org/W2047121252","https://openalex.org/W2047662796","https://openalex.org/W2048014553","https://openalex.org/W2063187648","https://openalex.org/W2066225507","https://openalex.org/W2072912348","https://openalex.org/W2090387340","https://openalex.org/W2097840570","https://openalex.org/W2108516715","https://openalex.org/W2126654294","https://openalex.org/W2341088166","https://openalex.org/W2954123183"],"related_works":["https://openalex.org/W1997631749","https://openalex.org/W2000265945","https://openalex.org/W1801809820","https://openalex.org/W2100656151","https://openalex.org/W2126654294","https://openalex.org/W2470919610","https://openalex.org/W2072912348","https://openalex.org/W2001409059","https://openalex.org/W2041141922","https://openalex.org/W1964789473"],"abstract_inverted_index":{"Isolated":[0],"TSH":[1,22,35,41,109,122,198],"deficiency":[2],"is":[3,167,200],"a":[4,38,81,92,102,116,143,153,180],"rare":[5],"cause":[6],"of":[7,77,83,106,115,119,191],"congenital":[8,192],"hypothyroidism.":[9],"We":[10],"here":[11],"report":[12],"four":[13],"children":[14,25,55,187],"from":[15],"two":[16],"consanguineous":[17],"Turkish":[18,150,158],"families":[19,151],"with":[20,129,188],"isolated":[21],"deficiency.":[23],"Affected":[24],"who":[26],"were":[27,51],"screened":[28],"at":[29,43,46,132],"newborn":[30],"age":[31],"had":[32],"an":[33,57],"unremarkable":[34],"result":[36],"and":[37,48,80,175,182],"low":[39,104],"serum":[40],"level":[42],"diagnosis.":[44],"Age":[45],"diagnosis":[47],"clinical":[49],"phenotype":[50],"variable.":[52],"All":[53],"affected":[54],"carried":[56],"identical":[58],"homozygous":[59],"splice":[60],"site":[61],"mutation":[62,73,140,155,166],"(IVS2":[63],"+":[64],"5":[65],"G-->":[66],"A)":[67],"in":[68,110,147,156,186],"the":[69,84,113,133,139,157,169,177,196],"TSHbeta":[70,134,165,172],"gene.":[71],"This":[72],"leads":[74],"to":[75,90],"skipping":[76],"exon":[78],"2":[79],"loss":[82],"translational":[85],"start":[86],"codon":[87],"without":[88],"ability":[89],"produce":[91],"TSH-like":[93],"protein.":[94],"However,":[95],"using":[96],"specific":[97],"monoclonal":[98],"antibodies,":[99],"we":[100,136],"detected":[101],"very":[103],"concentration":[105],"authentic,":[107],"heterodimeric":[108],"serum,":[111],"indicating":[112,152],"production":[114],"small":[117],"amount":[118],"correctly":[120],"spliced":[121],"mRNA.":[123],"By":[124],"genotyping":[125],"all":[126],"family":[127],"members":[128],"polymorphic":[130],"markers":[131],"locus,":[135],"show":[137],"that":[138,163],"arose":[141],"on":[142],"common":[144,171],"ancestral":[145],"haplotype":[146],"three":[148],"unrelated":[149],"founder":[154],"population.":[159],"These":[160],"results":[161],"suggest":[162],"this":[164],"among":[168],"more":[170],"gene":[173],"mutations":[174],"stress":[176],"need":[178],"for":[179],"biochemical":[181],"molecular":[183],"genetic":[184],"workup":[185],"symptoms":[189],"suggestive":[190],"hypothyroidism,":[193],"even":[194],"when":[195],"neonatal":[197],"screening":[199],"normal.":[201]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}