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Article

[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Jun 2022

Tian Mao-Qiang, Chen Xiao-Xi, Li Lei, Lang Chang-Hui, Li Juan, Chen Jing, Yu Xiao-Hua, Shu Xiao-Mei

Abstract excerpt

A boy, aged 5 years, attended the hospital due to progressive psychomotor regression for 2.5 years. Motor function regression was the main manifestation in the early stage, and brain MRI and whole-exome sequencing (WES) of the family showed no abnormalities. After the age of 4 years and 9 months, the boy developed cognitive function regression, and brain MRI showed cerebellar atrophy. The reanalysis of WES...

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PMID: 35762438
DOI: 10.7499/j.issn.1008-8830.2201048
PMCID: PMC9250405

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