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
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH et al.
European Journal of Medical Genetics, 2015
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.
Parenti I et al.
Epigenetics, 2014
Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.
Borck G et al.
Human Mutation, 2007
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A et al.
Nature Genetics, 2006
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