Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A

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TitreFurther delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A
Type de publicationJournal Article
Year of Publication2019
AuteursRacine C., Baptista J., Hawkes L., Thauvin-Robinet C., Vitobello A., Callier P., Duffourd Y., Philippe C., De Vries B., Verloes A., Hugot J., Bremond-Gignac D., Huet F., Bensignor C., Maudinas R., Fabre A., Esteve C., Ellard S., Rodrigues A., Blair E., Faivre L.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1529-1530
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813