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

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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Bibliographic Details
Main Authors: Tsai-Chu Yeh, Dau-Ming Niu, Hui-Chen Cheng, Yun-Ru Chen, Li-Zhen Chen, Shu-Ping Tsui, Ting-Wei Ernie Liao, An-Guor Wang, Chia-Feng Yang
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mainzer-Saldino syndrome
Retinal dystrophy
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000970

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