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Article

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the NCOA3 Gene.

Genes - 6 Jul 2021

Tesolin Paola, Morgan Anna, Notarangelo Michela, Ortore Rocco Pio, Concas Maria Pina, Notarangelo Angelantonio, Girotto Giorgia

Abstract excerpt

Hearing loss (HL) is the most frequent sensory disorder, affecting about 1-3 per 1000 live births, with more than half of the cases attributable to genetic causes. Despite the fact that many HL causative genes have already been identified, current genetic tests fail to provide a diagnosis for about 40% of the patients, suggesting that other causes still need to be discovered. Here, we describe a four-generation...

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Identifiers

PMID: 34356059
DOI: 10.3390/genes12071043
PMCID: PMC8304864

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