Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss

Sensorineural age-related hearing loss affects a large proportion of the elderly population, and has both environmental and genetic causes. Notwithstanding increasing interest in this debilitating condition, the genetic risk factors remain largely unknown. Here, we report the case of two sisters aff...

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Bibliographic Details
Main Authors: Nica Borgese, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti, Paola Carrera
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Biomedicines
Subjects:
ADGRV1
haploinsufficiency
nonsyndromic deafness
SANS
Usher gene network
Online Access:https://www.mdpi.com/2227-9059/11/10/2657

Internet

https://www.mdpi.com/2227-9059/11/10/2657

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