P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent

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Bibliographic Details
Published inGenetics in Medicine Open Vol. 2; p. 101234
Main Authors Perry, Gabriella, Merberg, Jessica, Gomez, Luis, Shah, Ankit, Hauser, Natalie
Format Journal Article
LanguageEnglish
Published Elsevier Inc 2024
Elsevier
Online AccessGet full text
ISSN2949-7744
2949-7744
DOI10.1016/j.gimo.2024.101234

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ISSN:2949-7744
2949-7744
DOI:10.1016/j.gimo.2024.101234