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Article

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.

Medicina (Kaunas, Lithuania) - 9 Sept 2022

Neagu Alexandra-Cristina, Budișteanu Magdalena, Gheorghe Dan-Cristian, Mocanu Adela-Ioana, Mocanu Horia

Abstract excerpt

(1) Background: In this paper, we report on three cases of hypoacusis as part of a complex phenotype and some rare gene variants. An extensive review of literature completes the newly reported clinical and genetic information. (2) Methods: The cases range from 2- to 11-year-old boys, all with a complex clinical picture and hearing impairment. In all cases, whole exome sequencing (WES) was performed, in the first...

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Identifiers

PMID: 36143929
DOI: 10.3390/medicina58091252
PMCID: PMC9501263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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