Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder

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TitreMutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder
Type de publicationJournal Article
Year of Publication2020
AuteursJ. Hoed den, de Boer E., Voisin N., Guex N., L. Blok S, Chrast J., Manwaring L., Willing M., Waheeb A., Osmond M., McWalter K., Vitobello A., Demurger F., Lavillaureix A., Odent S., Mazel B., Faivre L., Thiffault I., Schwager C., Amudhavalli S.M, Rosenfeld J.A, Radtke K., Preiksaitiene E., Ranza E., Depienne C., Kuechler A., Mohammed S., Y. Abedi H, Bonagura V.R, Zuccarelli B., Horist B., Krishnamurthy V., Kattentidt-Mouravieva A.A, Granger L., Petersen A., Jones K.L, Sinnema M., Stegmann A.PA, Newbury-Ecob R., Kini U., Newbury D.F, Gilissen C., Brunner H., Kleefstra T., Reymond A., Vissers L.ELM, Fisher S.E, Study DDD
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume28
Pagination32-33
Date PublishedDEC
Type of ArticleMeeting Abstract
ISSN1018-4813