20.500.12556/DiRROS-31706 Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy 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. ATP6V1B2 cochlear implantation DOD disorders of development sensorineural hearing loss syndromic hearing loss Zimmerman-Laband syndrome polžev vsadek motnje razvoja zaznavna naglušnost sindromska naglušnost sindrom Zimmerman-Laband redka genetska motnja true false true Angleški jezik Slovenski jezik Neznano 2026-08-06 10:30:39 2026-08-06 10:30:39 2026-08-07 03:58:32 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 16. 7. 2026; str. 1-8 no. [article no.] 105090 Vol. 82 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.21 1878-0849 10.1016/j.ejmg.2026.105090 285043459 RAZ_Chamieh_Sarah_2026.pdf RAZ_Chamieh_Sarah_2026.pdf 1 B6A421C5E1E10F2EA5E5C141158C4974 291b71e2aaf88897a64c08a97627f14c8b91eb4f0e59dc1db381528fd1ee65b7 8c1e6259-9171-11f1-af5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=49215 https://www.sciencedirect.com/science/article/pii/S1769721226000248?via%3Dihub 1 1c2adb28-9171-11f1-af5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=49213 Univerzitetni klinični center Ljubljana 0 0 0