Cargando…
Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. Here, we examined the role and genotype–phenotype correlation of MYO7A in ADHL. Enrolled families suspected of having post-lingual sensor...
Autores principales: | Joo, Sun Young, Na, Gina, Kim, Jung Ah, Yoo, Jee Eun, Kim, Da Hye, Kim, Se Jin, Jang, Seung Hyun, Yu, Seyoung, Kim, Hye-Youn, Choi, Jae Young, Gee, Heon Yung, Jung, Jinsei |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028242/ https://www.ncbi.nlm.nih.gov/pubmed/35453549 http://dx.doi.org/10.3390/biomedicines10040798 |
Ejemplares similares
-
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
por: Koh, Young Ik, et al.
Publicado: (2022) -
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
por: Jung, Jinsei, et al.
Publicado: (2017) -
Overlooked KCNQ4 variants augment the risk of hearing loss
por: Oh, Kyung Seok, et al.
Publicado: (2023) -
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
por: Rim, John Hoon, et al.
Publicado: (2021) -
Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
por: Kang, Minjin, et al.
Publicado: (2023)