DEAFNESS, X-LINKED 5 (disorder)

Known as: Auditory Neuropathy, X-Linked, 1, with Peripheral Sensory Neuropathy, DFNX5, AUNX1 
 
National Institutes of Health

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Cochlear NerveGenetic Diseases, X-LinkedPeripheral NeuropathySensorineural Hearing Loss (disorder)
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Papers overview

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2017
2017
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
In 1999, based on a single family, spondyloepimetaphyseal dysplasia (SEMD) with mental retardation (MR) was described as a novel… (More)
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2015
2015
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
BACKGROUND Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the… (More)
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