Article

Compound heterozygous mutations of two eIF2B genes in early childhood onset form of vanishing white matter disease

2020-03-09

Abstract excerpt

<title>Abstract</title> <p>Background Diagnoses of vanishing white matter disease (VWMD) were difficult due to variable clinical features, severity, age of onset and wide range of mutations in eIF2G genes which cause VWMD. This study reported two novel mutations in eIF2B genes associated with VWMD to and expand our understanding of VWMD. Case presentation Relevant data from clinical diagnoses and genetic mutation...

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Literature Corpus work: 51a59250-c55f-5081-beb4-90ac5c54f54f
DOI: 10.21203/rs.3.rs-16411/v1

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