Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22.
Hum Mol Genet. 2016.
PMID: 27005418