A Molecular diagnosis of WOREE syndrome that required genome sequencing to identify the second hit pathogenic variant in WWOX
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Titre | A Molecular diagnosis of WOREE syndrome that required genome sequencing to identify the second hit pathogenic variant in WWOX |
Type de publication | Journal Article |
Year of Publication | 2019 |
Auteurs | Plagos 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. |
Journal | EUROPEAN JOURNAL OF HUMAN GENETICS |
Volume | 27 |
Pagination | 1614-1615 |
Date Published | OCT |
Type of Article | Meeting Abstract |
ISSN | 1018-4813 |