Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families

BACKGROUND: Usher syndrome (USH) is a leading disorder of deaf–blindness. The phenotypic and genetic heterogeneity of USH makes the diagnosis of this disorder difficult. However, diagnosis can be facilitated by employing molecular approaches, especially for diseases without pronounced pathognomonic...

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Detalles Bibliográficos
Autores principales: Xing, Dongjun, Yu, Rongguo, Wang, Linni, Hu, Liying, Yang, Yang, Li, Chang, Li, Zhiqing, Li, Xiaorong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308926/
https://www.ncbi.nlm.nih.gov/pubmed/35870892
http://dx.doi.org/10.1186/s12886-022-02532-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308926/
https://www.ncbi.nlm.nih.gov/pubmed/35870892
http://dx.doi.org/10.1186/s12886-022-02532-6

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