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

Rocco Pio Ortore,Maria Pia Leone,Orazio Palumbo,Antonio Petracca,Eleonora M. C. Trecca,Aurelio D'Ecclesia,Ciro Lucio Vigliaroli,Lucia Micale,Francesco Longo,Salvatore Melchionda,Marco Castori

Audiology Research（2021）

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关键词
autosomal recessive,deafness,microdeletion,OTO,otoancorin
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