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
Date
2023
Authors
Kurolap, A.
Kreuder, F.
Gonzaga-Jauregui, C.
Duvdevani, M.P.
Harel, T.
Tammer, L.
Xin, B.
Bakhtiari, S.
Rice, J.
van Eyk, C.
Editors
Advisors
Journal Title
Journal ISSN
Volume Title
Type:
Conference item
Citation
European Journal of Human Genetics, 2023, vol.31, iss.Suppl. 1, pp.9-10
Statement of Responsibility
Alina Kurolap ... Clare van Eyk, Jozef Gecz ... et al.
Conference Name
55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)
Abstract
School/Discipline
Dissertation Note
Provenance
Description
Oral Presentation: CONCURRENT SESSIONSC01 NEW GENES IN NDDS -C01.6
Access Status
Rights
© The Author(s), under exclusive licence to European Society of Human Genetics 2023