Associated Papers
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.
Astorino MF et al.
Genes, 2025
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
Barañano KW et al.
Journal of Child Neurology, 2022
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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