Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

American journal of human genetics

Alina Kurolap, Florian Kreuder, Claudia Gonzaga-Jauregui, …, Michael C Kruer, Jan Kaslin, Hagit Baris Feldman

• DOI: 10.1016/j.ajhg.2022.01.004
• PMID: 35108495
• PMCID: PMC8948158