Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma
Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with aut...
Uloženo v:
| Vydáno v: | European journal of human genetics : EJHG Ročník 27; číslo 6; s. 869 - 878 |
|---|---|
| Hlavní autoři: | , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
England
Nature Publishing Group
01.06.2019
|
| Témata: | |
| ISSN: | 1018-4813, 1476-5438, 1476-5438 |
| On-line přístup: | Získat plný text |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
| Abstract | Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p.(Leu363Phe)] was identified. Young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells. There is evidence that PLS1 is important in the preservation of adult stereocilia and normal hearing. Four families segregated the European ancestral variant c.35delG [p.(Gly12fs)] in GJB2, and one family was homozygous for p.(Trp24*), an Indian subcontinent ancestral variant which is common amongst Roma from Slovakia, Czech Republic, and Spain. We also observed variants in known HI genes USH1G, USH2A, MYH9, MYO7A, and a splice site variant in MANBA (c.2158-2A>G) in a family with HI, intellectual disability, behavioral problems, and respiratory inflammation, which was previously reported in a Czech Roma family with similar features. Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans. We demonstrate a diverse genetic HI etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI. |
|---|---|
| AbstractList | Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p.(Leu363Phe)] was identified. Young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells. There is evidence that PLS1 is important in the preservation of adult stereocilia and normal hearing. Four families segregated the European ancestral variant c.35delG [p.(Gly12fs)] in GJB2, and one family was homozygous for p.(Trp24*), an Indian subcontinent ancestral variant which is common amongst Roma from Slovakia, Czech Republic, and Spain. We also observed variants in known HI genes USH1G, USH2A, MYH9, MYO7A, and a splice site variant in MANBA (c.2158-2A>G) in a family with HI, intellectual disability, behavioral problems, and respiratory inflammation, which was previously reported in a Czech Roma family with similar features. Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans. We demonstrate a diverse genetic HI etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI. Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p.(Leu363Phe)] was identified. Young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells. There is evidence that PLS1 is important in the preservation of adult stereocilia and normal hearing. Four families segregated the European ancestral variant c.35delG [p.(Gly12fs)] in GJB2, and one family was homozygous for p.(Trp24*), an Indian subcontinent ancestral variant which is common amongst Roma from Slovakia, Czech Republic, and Spain. We also observed variants in known HI genes USH1G, USH2A, MYH9, MYO7A, and a splice site variant in MANBA (c.2158-2A>G) in a family with HI, intellectual disability, behavioral problems, and respiratory inflammation, which was previously reported in a Czech Roma family with similar features. Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans. We demonstrate a diverse genetic HI etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI.Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with autosomal dominant non-syndromic HI segregating a rare variant in the Calponin-homology 2 domain of PLS1, or Plastin 1 [p.(Leu363Phe)] was identified. Young adult Pls1 knockout mice have progressive HI and show morphological defects to their inner hair cells. There is evidence that PLS1 is important in the preservation of adult stereocilia and normal hearing. Four families segregated the European ancestral variant c.35delG [p.(Gly12fs)] in GJB2, and one family was homozygous for p.(Trp24*), an Indian subcontinent ancestral variant which is common amongst Roma from Slovakia, Czech Republic, and Spain. We also observed variants in known HI genes USH1G, USH2A, MYH9, MYO7A, and a splice site variant in MANBA (c.2158-2A>G) in a family with HI, intellectual disability, behavioral problems, and respiratory inflammation, which was previously reported in a Czech Roma family with similar features. Lastly, using multidimensional scaling and ADMIXTURE analyses, we delineate the degree of Asian/European admixture in the HI families understudy, and show that Roma individuals carrying the GJB2 p.(Trp24*) and MANBA c.2158-2A>G variants have a more pronounced South Asian background, whereas the other hearing-impaired Roma display an ancestral background similar to Europeans. We demonstrate a diverse genetic HI etiology in the Hungarian Roma and identify a new gene PLS1, for autosomal dominant human non-syndromic HI. |
| Author | Leal, Suzanne M Nasir, Abdul Bene, Judit Karosi, Tamás Melegh, Béla I Szabo, Zsolt Acharya, Anushree Chakchouk, Imen Schrauwen, Isabelle Melegh, Béla Cornejo-Sanchez, Diana M Poston, Alexis |
| Author_xml | – sequence: 1 givenname: Isabelle surname: Schrauwen fullname: Schrauwen, Isabelle organization: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 2 givenname: Béla I surname: Melegh fullname: Melegh, Béla I organization: Department of Medical Genetics, University of Pecs, Medical School, and Szentagothai Research Centre, Pecs, Hungary – sequence: 3 givenname: Imen surname: Chakchouk fullname: Chakchouk, Imen organization: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 4 givenname: Anushree surname: Acharya fullname: Acharya, Anushree organization: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 5 givenname: Abdul orcidid: 0000-0002-2339-3500 surname: Nasir fullname: Nasir, Abdul organization: Synthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon, 443-749, South Korea – sequence: 6 givenname: Alexis surname: Poston fullname: Poston, Alexis organization: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, USA – sequence: 7 givenname: Diana M orcidid: 0000-0002-2667-7592 surname: Cornejo-Sanchez fullname: Cornejo-Sanchez, Diana M organization: Grupo Mapeo Genético, Facultad de Medicina, Universidad de Antioquia. Medellín, 050010470, Antioquia, Colombia – sequence: 8 givenname: Zsolt surname: Szabo fullname: Szabo, Zsolt organization: Department of Otolaryngology and Head and Neck Surgery, B-A-Z County Central Hospital and University Teaching Hospital, Miskolc, Hungary – sequence: 9 givenname: Tamás surname: Karosi fullname: Karosi, Tamás organization: Department of Otolaryngology and Head and Neck Surgery, B-A-Z County Central Hospital and University Teaching Hospital, Miskolc, Hungary – sequence: 10 givenname: Judit surname: Bene fullname: Bene, Judit organization: Department of Medical Genetics, University of Pecs, Medical School, and Szentagothai Research Centre, Pecs, Hungary – sequence: 11 givenname: Béla surname: Melegh fullname: Melegh, Béla organization: Department of Medical Genetics, University of Pecs, Medical School, and Szentagothai Research Centre, Pecs, Hungary – sequence: 12 givenname: Suzanne M surname: Leal fullname: Leal, Suzanne M email: sleal@bcm.edu organization: Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX, USA. sleal@bcm.edu |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/30872814$$D View this record in MEDLINE/PubMed |
| BookMark | eNpdkEFr3DAQhUXZ0M1u-wNyCYJcenGjkWRLPoal7RYWEpL0bGbl8UbBljaWTdh_X5Uml8xlBt43b4a3YosQAzF2AeI7CGWvkwatoBBQF0IZWZw-sXPQpipKrewizwJsoS2oJVul9CxEFg18ZkslrJEW9DmbtoSjDwfuhyP6caAw8T66OfEnmmiMBwrkpxPH0HLfZtV33uHkY-Cx43e7B-CYOPJArxznKaY4YM_bOPiA2erfOveBb-dwyHcw8PsMfGFnHfaJvr71Nfvz88fjZlvsbn_93tzsCqelmQqsWwfOSVPaEmq0pFrbQVchOQ3WQLXHLgcgrZYddShKVFBrkpWTGsDUas2-_fc9jvFlpjQ1g0-O-h4DxTk1EmoFVVlWNqNXH9DnOI8hf9fIXJUujVaZunyj5v1AbXMc_YDjqXnPU_0FzUF5cw |
| CitedBy_id | crossref_primary_10_1515_medgen_2020_2022 crossref_primary_10_1016_j_ijporl_2023_111777 crossref_primary_10_1002_humu_23891 crossref_primary_10_3390_genes12040566 crossref_primary_10_1111_cge_13626 crossref_primary_10_1038_s41431_025_01789_x crossref_primary_10_1186_s13023_020_01508_3 crossref_primary_10_3390_genes15070845 crossref_primary_10_1111_cge_14283 crossref_primary_10_1016_j_heares_2020_107906 |
| ContentType | Journal Article |
| Copyright | 2019© European Society of Human Genetics 2019 |
| Copyright_xml | – notice: 2019© European Society of Human Genetics 2019 |
| DBID | CGR CUY CVF ECM EIF NPM 3V. 7X7 7XB 88A 88E 8AO 8FD 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FR3 FYUFA GHDGH GNUQQ HCIFZ K9. LK8 M0S M1P M7P P64 PHGZM PHGZT PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS RC3 7X8 |
| DOI | 10.1038/s41431-019-0372-y |
| DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed ProQuest Central (Corporate) Health & Medical Collection ProQuest Central (purchase pre-March 2016) Biology Database (Alumni Edition) Medical Database (Alumni Edition) ProQuest Pharma Collection Technology Research Database ProQuest SciTech Collection ProQuest Natural Science Collection Hospital Premium Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central (Alumni) ProQuest Central UK/Ireland ProQuest Central Essentials Biological Science Collection ProQuest Central Natural Science Collection ProQuest One Community College ProQuest Central Engineering Research Database Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) ProQuest Biological Science Collection Health & Medical Collection (Alumni Edition) PML(ProQuest Medical Library) Biological Science Database Biotechnology and BioEngineering Abstracts ProQuest Central Premium ProQuest One Academic ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China Genetics Abstracts MEDLINE - Academic |
| DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) ProQuest Central Student Technology Research Database ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing ProQuest Natural Science Collection ProQuest Pharma Collection ProQuest Central China ProQuest Biology Journals (Alumni Edition) ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Genetics Abstracts Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) Biotechnology and BioEngineering Abstracts ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition Engineering Research Database ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | MEDLINE ProQuest Central Student MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: BENPR name: ProQuest Central url: https://www.proquest.com/central sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine Biology |
| EISSN | 1476-5438 |
| EndPage | 878 |
| ExternalDocumentID | 30872814 |
| Genre | Multicenter Study Clinical Trial Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural |
| GeographicLocations | Hungary |
| GeographicLocations_xml | – name: Hungary |
| GrantInformation_xml | – fundername: NIDCD NIH HHS grantid: R01 DC003594 – fundername: NIDCD NIH HHS grantid: R01 DC011651 – fundername: NHGRI NIH HHS grantid: UM1 HG006493 |
| GroupedDBID | --- -Q- 0R~ 29G 2WC 36B 39C 4.4 406 53G 5GY 70F 7X7 88E 8AO 8FE 8FH 8FI 8FJ 8R4 8R5 AACDK AANZL AASML AATNV AAYOK AAYZH ABAKF ABAWZ ABDBE ABDBF ABJNI ABLJU ABUWG ABZZP ACAOD ACGFO ACGFS ACKTT ACPRK ACRQY ACUHS ACZOJ ADBBV ADFRT AEFQL AEJRE AEMSY AENEX AESKC AEVLU AEXYK AFBBN AFKRA AFSHS AGAYW AGHAI AGQEE AHMBA AHSBF AIGIU AILAN AJRNO ALFFA ALIPV ALMA_UNASSIGNED_HOLDINGS AMYLF AOIJS ASPBG AVWKF AXYYD AYFIA AZFZN B0M BAWUL BBNVY BENPR BHPHI BKKNO BPHCQ BVXVI CAG CCPQU CGR COF CS3 CUY CVF DIK DNIVK DPUIP DU5 E3Z EAD EAP EAS EBC EBD EBLON EBS ECM EE. EHN EIF EIOEI EJD EMB EMK EMOBN EPL EPT ESX F5P FDQFY FEDTE FERAY FIGPU FIZPM FSGXE FYUFA GX1 HCIFZ HMCUK HVGLF HYE HZ~ IWAJR JSO JZLTJ KQ8 LK8 M1P M7P NPM NQJWS O9- OK1 P2P PHGZT PQQKQ PROAC PSQYO Q2X Q~Q RIG RKO RNS RNT RNTTT ROL RPM SNX SNYQT SOHCF SOJ SRMVM SV3 SWTZT TAOOD TBHMF TDRGL TR2 TUS UKHRP Y6R ~8M 3V. 7XB 88A 8FD 8FK ABBRH ABFSG ABRTQ ACSTC AEZWR AFDZB AFHIU AHWEU AIXLP ATHPR AZQEC DWQXO FR3 GNUQQ K9. P64 PHGZM PJZUB PKEHL PPXIY PQEST PQGLB PQUKI PRINS RC3 7X8 |
| ID | FETCH-LOGICAL-c427t-a9dc1cc2758519a8e3d8f1f6aec418716baf1432842fefa05a3194e26c2411793 |
| IEDL.DBID | 7X7 |
| ISICitedReferencesCount | 11 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000467381900005&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1018-4813 1476-5438 |
| IngestDate | Wed Nov 12 06:14:34 EST 2025 Mon Oct 06 17:23:47 EDT 2025 Thu Apr 03 07:06:23 EDT 2025 |
| IsDoiOpenAccess | false |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 6 |
| Language | English |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c427t-a9dc1cc2758519a8e3d8f1f6aec418716baf1432842fefa05a3194e26c2411793 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Feature-1 content type line 23 |
| ORCID | 0000-0002-2667-7592 0000-0002-2339-3500 |
| OpenAccessLink | https://www.nature.com/articles/s41431-019-0372-y.pdf |
| PMID | 30872814 |
| PQID | 2222645743 |
| PQPubID | 34182 |
| PageCount | 10 |
| ParticipantIDs | proquest_miscellaneous_2193165568 proquest_journals_2222645743 pubmed_primary_30872814 |
| PublicationCentury | 2000 |
| PublicationDate | 2019-06-01 |
| PublicationDateYYYYMMDD | 2019-06-01 |
| PublicationDate_xml | – month: 06 year: 2019 text: 2019-06-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | England |
| PublicationPlace_xml | – name: England – name: Leiden |
| PublicationTitle | European journal of human genetics : EJHG |
| PublicationTitleAlternate | Eur J Hum Genet |
| PublicationYear | 2019 |
| Publisher | Nature Publishing Group |
| Publisher_xml | – name: Nature Publishing Group |
| SSID | ssj0014771 |
| Score | 2.3311176 |
| Snippet | Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern... |
| SourceID | proquest pubmed |
| SourceType | Aggregation Database Index Database |
| StartPage | 869 |
| SubjectTerms | Amino Acid Substitution Autosomal dominant inheritance Calponin Child Child, Preschool Chromosome Disorders - genetics Etiology Female Genes, Dominant Genetic diversity Genetic Loci Hair cells Hearing loss Hearing Loss - genetics Homology Humans Hungary Male Membrane Glycoproteins - genetics Microfilament Proteins - genetics Multidimensional scaling Mutation, Missense Population genetics Preservation Roma - genetics Scaling USH2A protein |
| Title | Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/30872814 https://www.proquest.com/docview/2222645743 https://www.proquest.com/docview/2193165568 |
| Volume | 27 |
| WOSCitedRecordID | wos000467381900005&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwEB5BC1UvPMqjC2VlJK5W144TO6eqoFZ7oKuogLS31cR21D2QlE22Uv89M0m2nODCxZc4cWSP5_vmYQ_Ap0SXQaUYZMAkSJOGIPPSBenyKpk5bw063xebsIuFWy7zYnS4tWNa5U4n9oo6NJ595KeEY4TdKQHe2e0vyVWjOLo6ltB4DPtcNpvl3C4fDC5l7GBwzRQ7zVSyi2om7rQ1RBTYkM7lLLFa3v-dYfZIc_n8f__xBTwbOaY4H4TiJTyK9RE8HapO3h_BwdUYT38F3ZwEncBL8GHJ9YY9hYLQbduKG06TaUi6ItF0gXUQ6zAmFvVrKZpKFF-_KYGtQEHcXOC2a9rmJw0cmiG_RvDrYl2LOWkUGgdrcU0dXsOPy4vvX-ZyrMMgvdG2k5gHr7zXbFqoHF1MgqtUlWH0RrHBVWJFs0lAp6tY4SxF2tcm6swTPWAF8Ab26qaOxyAQEzSVTdOUaGcWrSstgXRVel36gJmfwMluZlfjZmpXf6Z1Ah8fHtM24NgG1rHZUh8ioirj69Qm8HZYvdXtcF_Hii891E6Zd__--Hs41L08sIvlBPa6zTZ-gCf-rlu3m2kvWX3rprD_-WJRXE85UbSgdlFc_QawIdxN |
| linkProvider | ProQuest |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6V8rzwKBQWChgJjlZjx0mcA0IIqLbqdrWCIvWWTvwQe2hSNlnQ_il-I-M8ygluPXCOYyf255lvHvYAvI5laUWClluMLVeJtTwvteU693GkTaZQm67YRDaf69PTfLEFv8azMCGtcpSJnaC2tQk-8n3SY6S7E1J47y6-81A1KkRXxxIaPSyO3OYnmWzN28OPtL5vpDz4dPJhyoeqAtwombUcc2uEMTIQZZGjdrHVXvgUnVEimA8leiIRJLaldx6jBAmlysnUkLILcKZ-r8F1ohEy6lIFF5dRC5X1Bl4kgpNOxGMUNdb7jaI-g-Ge8yjOJN_8ndF2mu3g3v82J_fh7sCh2fse9A9gy1U7cLOvqrnZgVvHQ77AQ2in9HWknFk4DLpcBU8oI-29bti3kAZU0-5xZIYwrCxb2iFxqsMqqz1bzL4Ihg1DRrYHw3VbN_U5DWzrPn-IhdfZsmJTkpg0DlbsMzV4BF-v5O93YbuqK_cEGGKMymdJkhCtTl2my4xIiC-NLI3F1Exgb1zJYhAWTfFnGSfw6vIxbfMQu8HK1WtqQ0RbpOG6uAk87tFSXPT3kRThUkephXr6785fwu3pyfGsmB3Oj57BHdlhMbiT9mC7Xa3dc7hhfrTLZvWiQzWDs6uGzG_jNzPy |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwEB6VLVRceJTXQgEjwdHatfOwc0AIaFdbtaxWBaTewsQPsQeSssmC9q_x6xjnUU5w64FzHDuxP8_MNzP2ALyMZGFFgpZbjCyPE2t5VmjLdeajqTYqRm3aYhNqsdDn59lyB34NZ2FCWuUgE1tBbSsTfOQT0mOkuxNSeBPfp0UsD2dvLr7zUEEqRFqHchodRE7c9ifRt_r18SGt9SspZ0ef3s95X2GAm1iqhmNmjTBGBqNZZKhdZLUXPkVnYhGoRIGeDAoS4dI7j9MECbGxk6khxRegTf1eg10VEekZwe67o8Xy7DKGEauO7k1FcNmJaIipRnpSx9RroPEZn0ZK8u3f7dtWz81u_88zdAdu9dY1e9tth7uw48p9uNHV29zuw96HPpPgHjRz-jpS2ywcE12tg4-UkV7f1OxrSBCqaF85IigMS8tWtk-palHMKs-Wpx8Fw5ohI1bCcNNUdfWNBrZVl1nEwutsVbI5yVIaB0t2Rg3uw-cr-fsHMCqr0j0Chhhh7FWSJGRwp07pQpF54gsjC2MxNWM4GFY178VInf9Z0jG8uHxMAiBEdbB01YbakAku0nCR3BgedsjJL7qbSvJw3aPUIn78786fwx4hJT89Xpw8gZuyhWXwMx3AqFlv3FO4bn40q3r9rIc4gy9XjZnfKn0-Cg |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Hearing+impairment+locus+heterogeneity+and+identification+of+PLS1+as+a+new+autosomal+dominant+gene+in+Hungarian+Roma&rft.jtitle=European+journal+of+human+genetics+%3A+EJHG&rft.au=Schrauwen+Isabelle&rft.au=Melegh%2C+B%C3%A9la+I&rft.au=Chakchouk+Imen&rft.au=Acharya+Anushree&rft.date=2019-06-01&rft.pub=Nature+Publishing+Group&rft.issn=1018-4813&rft.eissn=1476-5438&rft.volume=27&rft.issue=6&rft.spage=869&rft.epage=878&rft_id=info:doi/10.1038%2Fs41431-019-0372-y&rft.externalDBID=HAS_PDF_LINK |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1018-4813&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1018-4813&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1018-4813&client=summon |