Associated Papers
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Gil-Salvador M et al.
Scientific Reports, 2025
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Latorre-Pellicer A et al.
Scientific Reports, 2021
34326454 (PubMed )
Supplement: 41598_2021_94958_MOESM1_ESM.pdf
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
Gonzalez Garcia A et al.
Cold Spring Harbor Molecular Case Studies, 2020
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