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Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

BACKGROUND: Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of c...

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Detalles Bibliográficos
Autores principales: Xiao, Yi-shuang, He, Wen-Ji, Jiang, Hong-chao, Tan, Li, Ma, Jing, Zhang, Zhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236786/
https://www.ncbi.nlm.nih.gov/pubmed/37264419
http://dx.doi.org/10.1186/s13256-023-03830-3