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A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mutations, presenting auditory neuropathy spectrum d...

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Detalles Bibliográficos
Autores principales: Forli, Francesca, Bruschini, Luca, Franciosi, Beatrice, Battini, Roberta, Marinella, Gemma, Berrettini, Stefano, Lazzerini, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8628573/
https://www.ncbi.nlm.nih.gov/pubmed/34842607
http://dx.doi.org/10.3390/audiolres11040055