Publications

Kurolap A et al. Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. Am J Hum Genet. 2022;109(3):518-532. PMID: 35108495.

Elahi Z et al. Bi-allelic loss of function variant in the NRCAM gene is associated with motor-predominant axonal polyneuropathy; the second report.Mol Genet Genomic Med. 2023;11(4):e2131. PMID: 36606341.