P411: Rapid genome sequencing and RNA analysis provides early diagnosis of Ritscher-Schinzel type 2 syndrome for infant with evolving phenotype

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Bibliographic Details
Published in:Genetics in Medicine Open 2024, Vol.2, p.101305, Article 101305
Main Authors: Rust, Laura, Hazelton, Paige, Farris, Joseph, Wilke, Matheus, Klee, Eric, Thompson, Whitney, Thurman, Sarah, Schimmenti, Lisa, Lanpher, Brendan
Format: Article
Language:English
Online Access:Get full text
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2024.101305