PU¶PubMed·Journal article·Research (general)·5w agoCOCH -Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype CorrelationsFor audiologists and geneticists: when autosomal dominant non-syndromic sensorineural hearing loss is suspected, COCH gene testing is warranted; newly identified variants from this cohort may expand diagnostic panels, but clinical management protocols are not yet changed by...
PU¶PubMed·Journal article·Clinical audiology·8w agoThe Audiological Aspect of Beckwith-Wiedemann Syndrome: A Systematic ReviewAudiologists working with patients who have Beckwith-Wiedemann syndrome should be aware of associated hearing involvement, but clinical protocols should await clearer evidence from larger studies; routine audiological monitoring of these patients is prudent.+Save