Auditory Neuropathy Spectrum Disorder
What's New
Last Posted: Mar 14, 2023
- Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing.
Sun Lianhua, et al. Frontiers in neurology 2022 0 1026695 - ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.
Han Kyu-Hee, et al. Scientific reports 2017 0 (1) 16504 - Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
Kim Bong Jik, et al. Journal of translational medicine 2018 0 (1) 330 - Targeted next generation sequencing reveals OTOF mutations in auditory neuropathy spectrum disorder.
Chen Kaitian, et al. International journal of pediatric otorhinolaryngology 2018 0 19-23 - OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Iwasa Yoh-Ichiro, et al. PloS one 2019 0 (5) e0215932 - [OTOF-related auditory neuropathy spectrum disorder].
Lalayants M R, et al. Vestnik otorinolaringologii 2020 0 (2) 21-25 - Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Iwasa Yoh-Ichiro, et al. Human genetics 2021 0 (3-4) 865-875 - The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
Omar R, et al. The Journal of laryngology and otology 2021 0 (11) 1000-1009 - Tone-Burst Auditory Brainstem Response and Cortical Potentials in Diagnosis of Syndromic Auditory Neuropathy Spectrum Disorder.
Kaf Wafaa A, et al. Journal of audiology & otology 2022 0 - Outcomes of Gene Panel Testing for Sensorineural Hearing Loss in a Diverse Patient Cohort.
Liao Elizabeth N et al. JAMA network open 2022 5(9) e2233441
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Apr 01, 2023
- Content source: