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Recessive sensorineural hearing loss
(phenotype)
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OMIM - Multisystem Complex Disorders
OMIM - Congenital disorder
OMIM - Chudley-McCullough syndrome
OMIM - Heimler syndrome
OMIM - Ataxia
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Literature
Most Relevant Literature
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndr…
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing…
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic s…
Challenges in whole exome sequencing: an example from hereditary deafness.
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patie…
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Clinical Trials
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Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss
Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations i…
CT and MRI for Pre-Operative Cochlear Imaging
Radiological Classification of the Facial Nerve
Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery
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