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 Alina Kurolap , Florian Kreuder , Claudia Gonzaga-Jauregui , Morasha Plesser Duvdevani , Tamar Harel , Luna Tammer , Baozhong Xin , Somayeh Bakhtiari , James Rice , Clare van Eyk , Jozef Gecz , Jean K. Mah , Derek Atkinson , Heidi Cope , Jennifer A. Sullivan , Alon M. Douek , Daniel Colquhoun , Jason Henry , Donald Wlodkowic , Yesim Parman , Ayse Candayan , Elif Kocasoy-Orhan , Anat Ilivitzki , Shiri Soudri , Rina Leibu , Fabian Glaser , Valerie Sency , Gil Ast , Vandana Shashi , Michael C. Fahey , Esra Battaloglu , Albena Jordanova , Vardiella Meiner , A. Micheil Innes , Heng Wang , Orly Elpeleg , Michael C. Kruer , Jan Kaslin , Hagit Baris Feldman EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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