Associated Papers
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Bai L et al.
Artificial Cells, Nanomedicine, and Biotechnology, 2026
Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.
Yang W et al.
Heliyon, 2024
A Novel KIDINS220 Pathogenic Variant Associated with the Syndromic Spastic Paraplegia SINO: An Expansion of the Brain Malformation Spectrum and a Literature Review.
Bonati MT et al.
Genes, 2024
Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Mero IL et al.
Human Molecular Genetics, 2017
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Josifova DJ et al.
Human Molecular Genetics, 2016
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