Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss

BACKGROUND: Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss‐of‐function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15 protein that plays an important role in the...

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Detalles Bibliográficos
Autores principales: Yang, Ziying, Huang, Minhong, Wei, Xiuxiu, Sun, Jun, Zhang, Fuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337273/
https://www.ncbi.nlm.nih.gov/pubmed/37232061
http://dx.doi.org/10.1002/mgg3.2193

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337273/
https://www.ncbi.nlm.nih.gov/pubmed/37232061
http://dx.doi.org/10.1002/mgg3.2193

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