| Title: | Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy |
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| Authors: | ID Chamieh, Sarah (Author)
ID Marzin, Pauline (Author)
ID Achard, Sophie (Author)
ID Blanc, Pierre (Author)
ID Jonard, Laurence (Author)
ID Battelino, Saba (Author)
ID Trebušak Podkrajšek, Katarina (Author)
ID Serey-Gaut, Margaux (Author)
ID Marlin, Sandrine (Author) |
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| Files: |  PDF - Presentation file, download (6,21 MB)
MD5: B6A421C5E1E10F2EA5E5C141158C4974
 URL - Source URL, visit https://www.sciencedirect.com/science/article/pii/S1769721226000248?via%3Dihub
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| Language: | English |
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| Typology: | 1.03 - Other scientific articles |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | The gold standard recommendation for congenital sensorineural hearing loss (SNHL) care is cochlear implantation (CI). Adjusting for confounding factors such as developmental comorbidities is crucial when assessing expected outcomes of the procedure for the patients, their families, and their medical teams. We describe two clinical cases of the deafness and onychodystrophy (DOD) spectrum and the benefit of molecular diagnosis to underline the importance of genetic testing when evaluating potential CI outcomes in syndromic congenital SNHL. |
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| Keywords: | ATP6V1B2, cochlear implantation, DOD, disorders of development, sensorineural hearing loss, syndromic hearing loss, Zimmerman-Laband syndrome |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1-8 |
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| Numbering: | Vol. 82, no. [article no.] 105090 |
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| PID: | 20.500.12556/DiRROS-31706  |
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| UDC: | 616.21 |
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| ISSN on article: | 1878-0849 |
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| DOI: | 10.1016/j.ejmg.2026.105090 |
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| COBISS.SI-ID: | 285043459 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 16. 7. 2026;
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| Publication date in DiRROS: | 06.08.2026 |
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| Views: | 112 |
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| Downloads: | 148 |
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