P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes

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Bibliographic Details
Published in:Genetics in Medicine Open 2023, Vol.1 (1), p.100631, Article 100631
Main Authors: Wang, Xin (David), Kirsten, Kelly, Wright, Meredith, Kim-McManus, Olivia, Ceulemans, Sophia, Feigenbaum, Annette, Tsai, Hannah, Lenberg, Jerica, Gray, Paula, Shinde, Deepali, Guidugli, Lucia, Tokita, Mari
Format: Article
Language:English
Online Access:Get full text
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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2023.100631