Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases. Excluding GJB2 and GJB6, OTOA is one of the leading genes associated with autosomal recessive non-syndromic HL. Allelic heterogeneity linked to OT...

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Detalles Bibliográficos
Autores principales: Ortore, Rocco Pio, Leone, Maria Pia, Palumbo, Orazio, Petracca, Antonio, Trecca, Eleonora M. C., D’Ecclesia, Aurelio, Vigliaroli, Ciro Lucio, Micale, Lucia, Longo, Francesco, Melchionda, Salvatore, Castori, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8482239/
https://www.ncbi.nlm.nih.gov/pubmed/34562879
http://dx.doi.org/10.3390/audiolres11030041

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