{"id":"https://openalex.org/W2072863232","doi":"https://doi.org/10.1159/000095899","title":"Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome","display_name":"Characteristics of Hearing Loss in HDR (Hypoparathyroidism, Sensorineural Deafness, Renal Dysplasia) Syndrome","publication_year":2006,"publication_date":"2006-01-01","ids":{"openalex":"https://openalex.org/W2072863232","doi":"https://doi.org/10.1159/000095899","mag":"2072863232","pmid":"https://pubmed.ncbi.nlm.nih.gov/16988501"},"language":"en","primary_location":{"id":"doi:10.1159/000095899","doi":"https://doi.org/10.1159/000095899","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000095899","pdf_url":null,"source":{"id":"https://openalex.org/S60637438","display_name":"Audiology and Neurotology","issn_l":"1420-3030","issn":["1420-3030","1421-9700"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Audiology and Neurotology","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/A5091463794","display_name":"Marjolein A.J. van Looij","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marjolein A.J. van Looij","raw_affiliation_strings":["Department of ENT, Erasmus Medical Center, Rotterdam, The Netherlands. m.vanlooij@erasmusmc.nl","ENT and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of ENT, Erasmus Medical Center, Rotterdam, The Netherlands. m.vanlooij@erasmusmc.nl","institution_ids":["https://openalex.org/I2801952686"]},{"raw_affiliation_string":"ENT and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076448508","display_name":"Hanne E.J. Meijers-Heijboer","orcid":"https://orcid.org/0000-0003-1169-3853","observed_orcids":["https://orcid.org/0000-0003-1169-3853"]},"institutions":[{"id":"https://openalex.org/I2801952686","display_name":"Erasmus MC","ror":"https://ror.org/018906e22","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2801952686"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hanne Meijers-Heijboer","raw_affiliation_strings":["Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I2801952686"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109908826","display_name":"Rolf Beetz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rolf Beetz","raw_affiliation_strings":["Universit\u00e4ts-Kinderklinik, Mainz, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Universit\u00e4ts-Kinderklinik, Mainz, Germany","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080589561","display_name":"Rajesh V. Thakker","orcid":"https://orcid.org/0000-0002-1438-3220","observed_orcids":["https://orcid.org/0000-0002-1438-3220"]},"institutions":[{"id":"https://openalex.org/I2801179840","display_name":"Churchill Hospital","ror":"https://ror.org/009vheq40","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801179840","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Rajesh V. Thakker","raw_affiliation_strings":["Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2801179840","https://openalex.org/I40120149","https://openalex.org/I4210129944"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075231985","display_name":"Paul T. Christie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801179840","display_name":"Churchill Hospital","ror":"https://ror.org/009vheq40","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801179840","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Paul T. Christie","raw_affiliation_strings":["Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2801179840","https://openalex.org/I40120149","https://openalex.org/I4210129944"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084254779","display_name":"L. Feenstra","orcid":"https://orcid.org/0009-0003-3150-9352","observed_orcids":["https://orcid.org/0009-0003-3150-9352"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Lou W. Feenstra","raw_affiliation_strings":["ENT and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ENT and","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109978637","display_name":"Bert G.A. van Zanten","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bert G.A. van Zanten","raw_affiliation_strings":["ENT and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ENT and","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.4092,"has_fulltext":false,"cited_by_count":32,"citation_normalized_percentile":{"value":0.58891716,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"11","issue":"6","first_page":"373","last_page":"379"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10283","display_name":"Hearing Loss and Rehabilitation","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/3616","display_name":"Speech and Hearing"},"field":{"id":"https://openalex.org/fields/36","display_name":"Health Professions"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.0003000000142492354,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/hdr-syndrome","display_name":"HDR syndrome","score":0.9710000157356262},{"id":"https://openalex.org/keywords/hypoparathyroidism","display_name":"hypoparathyroidism","score":0.8889999985694885},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.9639999866485596},{"id":"https://openalex.org/keywords/renal-dysplasia","display_name":"renal dysplasia","score":0.9980000257492065},{"id":"https://openalex.org/keywords/speech-reception-threshold","display_name":"speech reception threshold","score":0.7009999752044678},{"id":"https://openalex.org/keywords/speech-recognition-in-noise","display_name":"speech recognition in noise","score":0.9459999799728394},{"id":"https://openalex.org/keywords/otoacoustic-emissions","display_name":"otoacoustic emissions","score":0.9610000252723694},{"id":"https://openalex.org/keywords/auditory-brainstem-response","display_name":"auditory brainstem response","score":0.8190000057220459},{"id":"https://openalex.org/keywords/outer-hair-cells","display_name":"outer hair cells","score":0.9169999957084656},{"id":"https://openalex.org/keywords/frequency-selectivity","display_name":"frequency selectivity","score":0.8050000071525574},{"id":"https://openalex.org/keywords/mouse-model","display_name":"mouse model","score":0.6729999780654907}],"concepts":[{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.7950665354728699},{"id":"https://openalex.org/C2780493683","wikidata":"https://www.wikidata.org/wiki/Q16035842","display_name":"Hearing loss","level":2,"score":0.7324905395507812},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7098013758659363},{"id":"https://openalex.org/C2780607864","wikidata":"https://www.wikidata.org/wiki/Q928697","display_name":"Sensorineural hearing loss","level":3,"score":0.6960362195968628},{"id":"https://openalex.org/C2780130748","wikidata":"https://www.wikidata.org/wiki/Q317857","display_name":"Cochlea","level":2,"score":0.5125920176506042},{"id":"https://openalex.org/C2780554537","wikidata":"https://www.wikidata.org/wiki/Q758881","display_name":"Audiometry","level":3,"score":0.47497981786727905},{"id":"https://openalex.org/C2781383708","wikidata":"https://www.wikidata.org/wiki/Q7261165","display_name":"Pure tone audiometry","level":4,"score":0.41868019104003906},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.4156637489795685},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.18928757309913635},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10677552223205566},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001301","descriptor_name":"Audiometry, Pure-Tone","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001302","descriptor_name":"Audiometry, Speech","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001309","descriptor_name":"Auditory Threshold","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007011","descriptor_name":"Hypoparathyroidism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007011","descriptor_name":"Hypoparathyroidism","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009622","descriptor_name":"Noise","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":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016057","descriptor_name":"Evoked Potentials, Auditory, Brain Stem","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D017084","descriptor_name":"Otoacoustic Emissions, Spontaneous","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D021782","descriptor_name":"Multicystic Dysplastic Kidney","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D021782","descriptor_name":"Multicystic Dysplastic Kidney","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D050990","descriptor_name":"GATA3 Transcription Factor","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D050990","descriptor_name":"GATA3 Transcription Factor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":6,"locations":[{"id":"doi:10.1159/000095899","doi":"https://doi.org/10.1159/000095899","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000095899","pdf_url":null,"source":{"id":"https://openalex.org/S60637438","display_name":"Audiology and Neurotology","issn_l":"1420-3030","issn":["1420-3030","1421-9700"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310317820","host_organization_name":"Karger Publishers","host_organization_lineage":["https://openalex.org/P4310317820"],"host_organization_lineage_names":["Karger Publishers"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Audiology and Neurotology","raw_type":"journal-article"},{"id":"pmid:16988501","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16988501","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":"Audiology & neuro-otology","raw_type":"Case Reports"},{"id":"pmh:oai:pure.eur.nl:openaire_cris_publications/a4c082b7-629c-4a80-9cfc-d12420ced716","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/a4c082b7-629c-4a80-9cfc-d12420ced716","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Looij, MAJ, Meijers-Heijboer, EJ, Beetz, R, Thakker, RV, Christie, PT, Feenstra, L & Zanten, B 2006, 'Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia syndrome)', Audiology and Neuro-Otology, vol. 11, pp. 373-379. https://doi.org/10.1159/000095899","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:amcpub:oai:pure.amc.nl:publications/09c8a384-8ff8-495a-a3b2-a0a23efb70fe","doi":null,"is_oa":false,"landing_page_url":"https://pure.amc.nl/en/publications/characteristics-of-hearing-loss-in-hdr-hypoparathyroidism-sensorineural-deafness-renal-dysplasia-syndrome(09c8a384-8ff8-495a-a3b2-a0a23efb70fe).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306401843","display_name":"Data Archiving and Networked Services (DANS)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1322597698","host_organization_name":"Royal Netherlands Academy of Arts and Sciences","host_organization_lineage":["https://openalex.org/I1322597698"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Audiology & neuro-otology, 11(6), 373 - 379. S. Karger AG","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/a4c082b7-629c-4a80-9cfc-d12420ced716","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/a4c082b7-629c-4a80-9cfc-d12420ced716","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Audiology and Neuro-Otology, 11, 373 - 379. Karger","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.amsterdamumc.nl:openaire_cris_publications/398d7ae9-3336-496e-98ab-52b2f69cb45d","doi":null,"is_oa":false,"landing_page_url":"https://pure.amsterdamumc.nl/en/publications/398d7ae9-3336-496e-98ab-52b2f69cb45d","pdf_url":null,"source":{"id":"https://openalex.org/S7407055222","display_name":"Pure Amsterdam UMC","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"van Looij, M A J, Meijers-Heijboer, H, Beetz, R, Thakker, R V, Christie, P T, Feenstra, L W & van Zanten, B G A 2006, 'Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome', Audiology & neuro-otology, vol. 11, no. 6, pp. 373-379. https://doi.org/10.1159/000095899","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321589","display_name":"Fondation pour la Recherche M\u00e9dicale","ror":"https://ror.org/04w6kn183"},{"id":"https://openalex.org/F4320331844","display_name":"Stichting Het Heinsius-Houbolt Fonds","ror":"https://ror.org/02rs16q27"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"},{"id":"https://openalex.org/F4320335551","display_name":"Erasmus+","ror":"https://ror.org/01v2m4n16"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W98599694","https://openalex.org/W1971359363","https://openalex.org/W1975723862","https://openalex.org/W1995506998","https://openalex.org/W2003613000","https://openalex.org/W2023097556","https://openalex.org/W2034567810","https://openalex.org/W2037008770","https://openalex.org/W2055034718","https://openalex.org/W2055585046","https://openalex.org/W2064599648","https://openalex.org/W2065331074","https://openalex.org/W2078858985","https://openalex.org/W2079386317","https://openalex.org/W2081837369","https://openalex.org/W2088350189","https://openalex.org/W2098959714","https://openalex.org/W2099139694","https://openalex.org/W2100342395","https://openalex.org/W2201699278","https://openalex.org/W2317139512"],"related_works":["https://openalex.org/W1972703012","https://openalex.org/W2947568405","https://openalex.org/W1995506998","https://openalex.org/W2313694138","https://openalex.org/W4400123641","https://openalex.org/W2079386317","https://openalex.org/W2592782141","https://openalex.org/W2471389624","https://openalex.org/W1782533743","https://openalex.org/W2204427289"],"abstract_inverted_index":{"Haploinsufficiency":[0],"of":[1,11,25,55,149,161,167],"the":[2,9,26,34,146,150,165,180],"zinc":[3],"finger":[4],"transcription":[5],"factor":[6],"GATA3":[7],"causes":[8],"triad":[10],"hypoparathyroidism,":[12],"deafness":[13],"and":[14,41,46,69,98,123,153,164],"renal":[15],"dysplasia,":[16],"known":[17],"by":[18,80,87],"its":[19],"acronym":[20],"HDR":[21,39,81,134],"syndrome.":[22,82],"The":[23,121,159],"purpose":[24],"current":[27],"study":[28],"was":[29,103],"to":[30,44,128,138,141],"describe":[31],"in":[32,37,51,64,76,101,111,133,178],"detail":[33],"auditory":[35,66],"phenotype":[36],"human":[38,122],"patients":[40,78,84],"compare":[42],"these":[43],"audiometrical":[45],"histological":[47],"data":[48],"previously":[49],"described":[50],"a":[52,88],"mouse":[53],"model":[54],"this":[56],"disease.":[57],"Pure":[58],"tone":[59],"audiometry,":[60,62],"speech":[61,63,99],"noise,":[65],"brainstem":[67,115],"responses":[68],"transiently":[70],"evoked":[71],"otoacoustic":[72,106,162],"emissions":[73,107,163],"were":[74,85,96,119],"measured":[75],"2":[77],"affected":[79,86],"Both":[83],"moderate-to-severe":[89],"sensorineural":[90],"hearing":[91,181],"loss.":[92,182],"Speech":[93],"reception":[94],"thresholds":[95],"shifted":[97],"recognition":[100],"noise":[102],"disturbed.":[104],"No":[105],"could":[108],"be":[109,142,155],"generated":[110],"either":[112],"patient.":[113],"Auditory":[114],"response":[116],"interpeak":[117],"intervals":[118],"normal.":[120],"murine":[124],"audiological":[125],"phenotypes":[126],"seem":[127],"correspond":[129],"well.":[130],"Hearing":[131],"loss":[132,166],"syndrome":[135],"is":[136],"moderate":[137],"severe,":[139],"seems":[140],"slightly":[143],"worse":[144],"at":[145],"higher":[147],"end":[148],"frequency":[151,168],"spectrum":[152],"may":[154],"progressive":[156],"with":[157],"age.":[158],"absence":[160],"selectivity":[169],"suggest":[170],"an":[171],"important":[172],"role":[173],"for":[174],"outer":[175],"hair":[176],"cells":[177],"causing":[179]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":4},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}