The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5,International Journal of Developmental Neuroscience

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The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5
International Journal of Developmental Neuroscience ( IF 1.8 ) Pub Date : 2021-08-17 , DOI: 10.1002/jdn.10147
Liping Dong _{1,

2} , Liangshan Li ₁ , Xiao Zhang ₁ , Xin Xu ₃ , Mengmeng Han ₁ , Shiguo Liu ₁

Affiliation

Vici syndrome (VICIS) refers to a clinical spectrum of multiple organ systems characterized by corpus callosum agenesis, hypopigmentation, cataracts, cardiomyopathy and immunodeficiency. The aims of this study were to describe detailed clinical and molecular features of two Chinese female siblings and to review several previous findings.

更新日期：2021-08-17

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