A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
ABSTRACT Background Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal‐dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wiley
2025-02-01
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| Collection: | Molecular Genetics & Genomic Medicine |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1002/mgg3.70068 |
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