A Molecular diagnosis of WOREE syndrome that required genome sequencing to identify the second hit pathogenic variant in WWOX

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TitreA Molecular diagnosis of WOREE syndrome that required genome sequencing to identify the second hit pathogenic variant in WWOX
Type de publicationJournal Article
Year of Publication2019
AuteursPlagos A., Callier P., Bruel A., Moutton S., Chevarin M., Jouan T., F. Them TMau, Duffourd Y., Faivre L., Thauvin-Robinet C., Vitobello A., Philippe C.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1614-1615
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813