Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity

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dc.contributor.authorKurolap, A.
dc.contributor.authorKreuder, F.
dc.contributor.authorGonzaga-Jauregui, C.
dc.contributor.authorDuvdevani, M.P.
dc.contributor.authorHarel, T.
dc.contributor.authorTammer, L.
dc.contributor.authorXin, B.
dc.contributor.authorBakhtiari, S.
dc.contributor.authorRice, J.
dc.contributor.authorvan Eyk, C.
dc.contributor.authorGecz, J.
dc.contributor.authorMah, J.K.
dc.contributor.authorAtkinson, D.
dc.contributor.authorCope, H.
dc.contributor.authorSullivan, J.A.
dc.contributor.authorDouek, A.M.
dc.contributor.authorColquhoun, D.
dc.contributor.authorHenry, J.
dc.contributor.authorWlodkowic, D.
dc.contributor.authorParman, Y.
dc.contributor.authoret al.
dc.contributor.conference55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)
dc.date.issued2023
dc.descriptionOral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6
dc.description.statementofresponsibilityAlina Kurolap ... Clare van Eyk, Jozef Gecz ... et al.
dc.identifier.citationEuropean Journal of Human Genetics, 2023, vol.31, iss.Suppl. 1, pp.9-10
dc.identifier.doi10.1038/s41431-023-01337-5
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidvan Eyk, C. [0000-0003-0345-9944]
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttps://hdl.handle.net/2440/140176
dc.language.isoen
dc.publisherSpringer
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1145048
dc.relation.granthttp://purl.org/au-research/grants/nhmrc/GNT1138870
dc.rights© The Author(s), under exclusive licence to European Society of Human Genetics 2023
dc.source.urihttps://www.nature.com/collections/idgiceffji
dc.titleBi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity
dc.typeConference item
pubs.publication-statusPublished

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