Auditory Neuropathy Spectrum Disorder
Last Posted: Sep 11, 2020
- Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder.
Lee Sang-Yeon et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(9)
- Impact of Universal Newborn Hearing Screening on cochlear implanted children in Ireland.
Gabriel Melissa M et al. International journal of pediatric otorhinolaryngology 2020 Feb 133109975
- Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.
Chang Mun Young, et al. Medicine 2015 11 (47) e1996
- OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
Iwasa YI, et al. BMC medical genetics 2013 9 (1) 1
- Auditory neuropathy spectrum disorder
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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