Post-zygotic MTOR mutations and Ito hypomelanosis: phenotypic spectrum and ultrastructural characterization

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TitrePost-zygotic MTOR mutations and Ito hypomelanosis: phenotypic spectrum and ultrastructural characterization
Type de publicationJournal Article
Year of Publication2019
AuteursCarmignac V., Sorlin A., Parker V.ER, Blanchard-Laumonnier E., Mignot C., Aubriot-Lorton M., Courcet J., Duffourd Y., Kuentz P., Rodriguez D., Knox R.G, Boland A., Olaso R., Darmency V., Quelin C., Odent S., Amram D., Chevarin M., Vincent-Delorme C., Catteau B., Guibaud L., Arzimanoglou A., Bessis D., Genevieve D., Deleuze J., Semple R., Philippe C., Faivre L., Riviere J., Vabres P.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1285
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813