Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy

A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnormalities were observed. Whole exome sequencing (WE...

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Detalles Bibliográficos
Autores principales: Yeh, Tsai-Chu, Niu, Dau-Ming, Cheng, Hui-Chen, Chen, Yun-Ru, Chen, Li-Zhen, Tsui, Shu-Ping, Liao, Ting-Wei Ernie, Wang, An-Guor, Yang, Chia-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646644/
https://www.ncbi.nlm.nih.gov/pubmed/36393898
http://dx.doi.org/10.1016/j.ymgmr.2022.100937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646644/
https://www.ncbi.nlm.nih.gov/pubmed/36393898
http://dx.doi.org/10.1016/j.ymgmr.2022.100937

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