Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. W...
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| Veröffentlicht in: | Human genetics 2022-04, Vol.141 (3-4), p.915-927 |
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| creator | Rim, John Hoon Noh, Byunghwa Koh, Young Ik Joo, Sun Young Oh, Kyung Seok Kim, Kyumin Kim, Jung Ah Kim, Da Hye Kim, Hye-Youn Yoo, Jee Eun Lee, Seung-Tae Bok, Jin Woong Lee, Min Goo Jung, Jinsei Choi, Jae Young Gee, Heon Yung |
| description | Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (
DLL1
), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor.
DLL1
was identified as a candidate gene causing ski-slope HL. |
| doi_str_mv | 10.1007/s00439-021-02367-z |
| format | Article |
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DLL1
), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor.
DLL1
was identified as a candidate gene causing ski-slope HL.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s00439-021-02367-z</identifier><identifier>PMID: 34519870</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Age ; Biomedical and Life Sciences ; Biomedicine ; Comparative analysis ; Deafness ; Ethylenediaminetetraacetic acid ; Gene Function ; Genes ; Hearing loss ; Hearing Loss - diagnosis ; Hearing Loss - genetics ; Hearing Loss, Sensorineural - genetics ; Hearing Tests ; Human Genetics ; Humans ; Investigations ; Ligands ; Metabolic Diseases ; Molecular Medicine ; Original Investigation ; Pathology, Molecular ; Pedigree ; Ski resorts ; The Molecular Genetics of Hearing and Deafness ; Whole Exome Sequencing</subject><ispartof>Human genetics, 2022-04, Vol.141 (3-4), p.915-927</ispartof><rights>The Author(s) 2021</rights><rights>2021. The Author(s).</rights><rights>COPYRIGHT 2022 Springer</rights><rights>The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c575t-dec6acf905b17e222095ec5540cfd1f0f5f2e69c5f7e1f5f8deeb5d42a60297d3</citedby><cites>FETCH-LOGICAL-c575t-dec6acf905b17e222095ec5540cfd1f0f5f2e69c5f7e1f5f8deeb5d42a60297d3</cites><orcidid>0000-0002-8741-6177</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00439-021-02367-z$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00439-021-02367-z$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34519870$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rim, John Hoon</creatorcontrib><creatorcontrib>Noh, Byunghwa</creatorcontrib><creatorcontrib>Koh, Young Ik</creatorcontrib><creatorcontrib>Joo, Sun Young</creatorcontrib><creatorcontrib>Oh, Kyung Seok</creatorcontrib><creatorcontrib>Kim, Kyumin</creatorcontrib><creatorcontrib>Kim, Jung Ah</creatorcontrib><creatorcontrib>Kim, Da Hye</creatorcontrib><creatorcontrib>Kim, Hye-Youn</creatorcontrib><creatorcontrib>Yoo, Jee Eun</creatorcontrib><creatorcontrib>Lee, Seung-Tae</creatorcontrib><creatorcontrib>Bok, Jin Woong</creatorcontrib><creatorcontrib>Lee, Min Goo</creatorcontrib><creatorcontrib>Jung, Jinsei</creatorcontrib><creatorcontrib>Choi, Jae Young</creatorcontrib><creatorcontrib>Gee, Heon Yung</creatorcontrib><title>Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><addtitle>Hum Genet</addtitle><description>Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (
DLL1
), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor.
DLL1
was identified as a candidate gene causing ski-slope HL.</description><subject>Adult</subject><subject>Age</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Comparative analysis</subject><subject>Deafness</subject><subject>Ethylenediaminetetraacetic acid</subject><subject>Gene Function</subject><subject>Genes</subject><subject>Hearing loss</subject><subject>Hearing Loss - diagnosis</subject><subject>Hearing Loss - genetics</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Hearing Tests</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Investigations</subject><subject>Ligands</subject><subject>Metabolic Diseases</subject><subject>Molecular Medicine</subject><subject>Original Investigation</subject><subject>Pathology, Molecular</subject><subject>Pedigree</subject><subject>Ski resorts</subject><subject>The Molecular Genetics of Hearing and Deafness</subject><subject>Whole Exome Sequencing</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp9kl1vFCEUhidGY9fqH_DCkHijF1P5GIblxqSpX02amPhxTVg4zNLMwArMRvsL_Nmy3dq6xhhCOMBzXnIOb9M8JfiEYCxeZYw7JltMSZ2sF-3VvWZBOkZbQjG73yww63DbCyKOmkc5X2JMuKT8YXPEOk7kUuBF8_ONdw4ShOL1iAYIULxB1ushxAwZRYe0nceCNjGXdvRhmCu3Bp1qiMaYM9LGxGR32xJRWQPSs_VxSHpCG10KpIB0sCjELYzI1NBbXeD6LQRbPc66-BgeNw-cHjM8uVmPm6_v3n45-9BefHx_fnZ60RoueGktmF4bJzFfEQGUUiw5GM47bJwlDjvuKPTScCeA1M3SAqy47ajuMZXCsuPm9V53M68msKZWnvSoNslPOv1QUXt1eBP8Wg1xq2TtphSyCry4EUjx2wy5qMlnA-OoA8Q5K8oF5ax-A6vo87_QyzinUMtTtOesZ7Ln5I4a9AjKBxfru2Ynqk4FJl3Pe7as1Mk_qDosTN7EAM7X84OElwcJlSnwvQx6zlmdf_50yNI9a1L90QTuth8Eq53X1N5rqnpNXXtNXdWkZ3928jblt7kqwPZA3uzcAumu_P_I_gIzNuG0</recordid><startdate>20220401</startdate><enddate>20220401</enddate><creator>Rim, John Hoon</creator><creator>Noh, Byunghwa</creator><creator>Koh, Young Ik</creator><creator>Joo, Sun Young</creator><creator>Oh, Kyung Seok</creator><creator>Kim, Kyumin</creator><creator>Kim, Jung Ah</creator><creator>Kim, Da Hye</creator><creator>Kim, Hye-Youn</creator><creator>Yoo, Jee Eun</creator><creator>Lee, Seung-Tae</creator><creator>Bok, Jin Woong</creator><creator>Lee, Min Goo</creator><creator>Jung, Jinsei</creator><creator>Choi, Jae Young</creator><creator>Gee, Heon Yung</creator><general>Springer Berlin Heidelberg</general><general>Springer</general><general>Springer Nature B.V</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8741-6177</orcidid></search><sort><creationdate>20220401</creationdate><title>Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation</title><author>Rim, John Hoon ; Noh, Byunghwa ; Koh, Young Ik ; Joo, Sun Young ; Oh, Kyung Seok ; Kim, Kyumin ; Kim, Jung Ah ; Kim, Da Hye ; Kim, Hye-Youn ; Yoo, Jee Eun ; Lee, Seung-Tae ; Bok, Jin Woong ; Lee, Min Goo ; Jung, Jinsei ; Choi, Jae Young ; Gee, Heon Yung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c575t-dec6acf905b17e222095ec5540cfd1f0f5f2e69c5f7e1f5f8deeb5d42a60297d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Adult</topic><topic>Age</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Comparative analysis</topic><topic>Deafness</topic><topic>Ethylenediaminetetraacetic acid</topic><topic>Gene Function</topic><topic>Genes</topic><topic>Hearing loss</topic><topic>Hearing Loss - diagnosis</topic><topic>Hearing Loss - genetics</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Hearing Tests</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Investigations</topic><topic>Ligands</topic><topic>Metabolic Diseases</topic><topic>Molecular Medicine</topic><topic>Original Investigation</topic><topic>Pathology, Molecular</topic><topic>Pedigree</topic><topic>Ski resorts</topic><topic>The Molecular Genetics of Hearing and Deafness</topic><topic>Whole Exome Sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rim, John Hoon</creatorcontrib><creatorcontrib>Noh, Byunghwa</creatorcontrib><creatorcontrib>Koh, Young Ik</creatorcontrib><creatorcontrib>Joo, Sun Young</creatorcontrib><creatorcontrib>Oh, Kyung Seok</creatorcontrib><creatorcontrib>Kim, Kyumin</creatorcontrib><creatorcontrib>Kim, Jung Ah</creatorcontrib><creatorcontrib>Kim, Da Hye</creatorcontrib><creatorcontrib>Kim, Hye-Youn</creatorcontrib><creatorcontrib>Yoo, Jee Eun</creatorcontrib><creatorcontrib>Lee, Seung-Tae</creatorcontrib><creatorcontrib>Bok, Jin Woong</creatorcontrib><creatorcontrib>Lee, Min Goo</creatorcontrib><creatorcontrib>Jung, Jinsei</creatorcontrib><creatorcontrib>Choi, Jae Young</creatorcontrib><creatorcontrib>Gee, Heon Yung</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rim, John Hoon</au><au>Noh, Byunghwa</au><au>Koh, Young Ik</au><au>Joo, Sun Young</au><au>Oh, Kyung Seok</au><au>Kim, Kyumin</au><au>Kim, Jung Ah</au><au>Kim, Da Hye</au><au>Kim, Hye-Youn</au><au>Yoo, Jee Eun</au><au>Lee, Seung-Tae</au><au>Bok, Jin Woong</au><au>Lee, Min Goo</au><au>Jung, Jinsei</au><au>Choi, Jae Young</au><au>Gee, Heon Yung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation</atitle><jtitle>Human genetics</jtitle><stitle>Hum Genet</stitle><addtitle>Hum Genet</addtitle><date>2022-04-01</date><risdate>2022</risdate><volume>141</volume><issue>3-4</issue><spage>915</spage><epage>927</epage><pages>915-927</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><abstract>Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (
DLL1
), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor.
DLL1
was identified as a candidate gene causing ski-slope HL.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>34519870</pmid><doi>10.1007/s00439-021-02367-z</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0002-8741-6177</orcidid><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Adult Age Biomedical and Life Sciences Biomedicine Comparative analysis Deafness Ethylenediaminetetraacetic acid Gene Function Genes Hearing loss Hearing Loss - diagnosis Hearing Loss - genetics Hearing Loss, Sensorineural - genetics Hearing Tests Human Genetics Humans Investigations Ligands Metabolic Diseases Molecular Medicine Original Investigation Pathology, Molecular Pedigree Ski resorts The Molecular Genetics of Hearing and Deafness Whole Exome Sequencing |
| title | Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation |
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