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
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
Tehrani Fateh S et al.
Bmc Medical Genomics, 2024
Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations.
Inoue S et al.
Nature Communications, 2019
31857578 (PubMed )
Supplement: 41467_2019_13708_MOESM12_ESM.xlsx › SD9_SNV_VT
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