Associated Papers
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL et al.
Genes, 2023
Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.
Türkyilmaz A et al.
Clinical Dysmorphology, 2020
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Phenotypes and genotypes in individuals with SMC1A variants.
Huisman S et al.
American Journal of Medical Genetics. Part A, 2017
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.
Jansen S et al.
Clinical Genetics, 2016
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