Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …

Hearing impairment is one of the most widespread inheritable sensory disorder affecting at
least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are …

Background Inherited retinal dystrophies are hereditary diseases which have in common the
progressive degeneration of photoreceptors. They are a group of diseases with clinical …

Usher Syndrome classification takes into account the absence of vestibular function but its
correlation with genotype is not well characterized. We intend to investigate whether video …

Objectives: To explore postural disability in Usher Syndrome (USH) patients using temporal
posturographic analysis to better elucidate sensory compensation strategies of deafblind …

The swift updates of public databases and advancements in next-generation sequencing
(NGS) technologies have enhanced the genetic identification capacities of epilepsy clinics …

Syndromic deafness caused by PTPN11 gene mutation has gradually come into the public's
view. In the past, many people did not understand its application mechanism and role and …

Usher syndrome (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

Inherited retinal diseases (IRDs) are a group of genetically and phenotypically
heterogenous disorders caused by variants in around 280 genes. Additional loci have also …