Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

Chen, N., Lee, H., Kim, A. H., Liu, P.-K., Kang, E. Y.-C., Tseng, Y.-J., Seo, G. H., Khang, R., Liu, L., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2022). Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. BMC Ophthalmology, 22(1). https://doi.org/10.1186/s12886-022-02659-6
Authors:
Nelson Chen
Hane Lee
Angela H. Kim
Pei-Kang Liu
Eugene Yu-Chuan Kang
Yun-Ju Tseng
Go Hun Seo
Rin Khang
Laura Liu
Kuan-Jen Chen
We-Chi Wu
Meng-Chang Hsiao
Nan-Kai Wang
Affiliated Authors:
Nelson Chen
Angela H. Kim
Pei-Kang Liu
Yun-Ju Tseng
Meng-Chang Hsiao
Nan-Kai Wang
Columbia Affiliation:
Subjects:
Usher Syndromes (MeSH)
Retinitis Pigmentosa (MeSH)
Molecular Mechanisms of Retinal Degeneration and Regeneration (OpenAlex Topic)
Cochlear Neuropathy and Hearing Loss Mechanisms (OpenAlex Topic)
Mechanisms of Intracellular Membrane Trafficking (OpenAlex Topic)
Author Keywords:
usher syndrome type 1f (ush1f)
pcdh15
protocadherin-15
loss of function
nonsense-mediated decay
syndromic retinitis pigmentosa
congenital hearing loss
case report
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Publication Type:
Article
Unique ID:
10.1186/s12886-022-02659-6
PMID:
36384460
DOI:
10.1186/s12886-022-02659-6
Journal:
BMC Ophthalmology
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created: