Article

Infantile Developmental Delay Caused by Pathogenic Mutation in WDR45 Gene and Literature Review

2021-10-14

Abstract excerpt

<h4>Background: </h4> The reasons of infantile developmental delay are varied and complexity. The mode of BPAN inheritance clinical manifestation and imaging findings of childhood BPAN patients are not typical. The reason of WDR45 mutation is still elusive. This study has the objective to give a comprehensive overview of the genetic and phenotypic spectrum of WDR45 mutations. Methods This study recruited 258 infa...

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Literature Corpus work: 131e3b76-5aab-5a2b-a162-f9e991029e99
DOI: 10.21203/rs.3.rs-964834/v1

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