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[A case of mild Zellweger spectrum disorder first diagnosed as Usher syndrome].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Oct 2022

Zhong J W, Ye H W, Xu K, Xie Y, Zhang X H, Li Y

Abstract excerpt

A 5-year-old female patient, presented with"night blindness and poor hearing for 1 year"whose first diagnosis was Usher syndrome due to retinitis pigmentosa accompanied by sensorineural deafness. Compound heterozygous variants (c.5G>A, p.W2*/c.3022C>T, p.P1008S) of PEX1, the causative gene for Zellweger spectrum disorder was confirmed by targeted exome sequencing analysis. Permanent tooth enamel dysplasia, nail...

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PMID: 36220650
DOI: 10.3760/cma.j.cn112142-20211206-00580

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