Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recess...
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
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Basel: MDPI AG
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Language
English
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Basel: MDPI AG
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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 OTOA also includes genomic rearrangements facilitate...
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Full title
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family
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TN_cdi_doaj_primary_oai_doaj_org_article_022434af817a417089d394876ba07f18
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_022434af817a417089d394876ba07f18
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ISSN
2039-4349,2039-4330
E-ISSN
2039-4349
DOI
10.3390/audiolres11030041
