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

Kurolap, A.Kreuder, F.Gonzaga-Jauregui, C.Duvdevani, M.P.Harel, T.Tammer, L.Xin, B.Bakhtiari, S.Rice, J.van Eyk, C.Gecz, J.Mah, J.K.Atkinson, D.Cope, H.Sullivan, J.A.Douek, A.M.Colquhoun, D.Henry, J.Wlodkowic, D.Parman, Y.et al.2023-12-132023-12-132023European Journal of Human Genetics, 2023, vol.31, iss.Suppl. 1, pp.9-101018-48131476-5438https://hdl.handle.net/2440/140176Oral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6en© The Author(s), under exclusive licence to European Society of Human Genetics 2023Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticityConference item10.1038/s41431-023-01337-52023-12-12673997van Eyk, C. [0000-0003-0345-9944]Gecz, J. [0000-0002-7884-6861]