Associated Papers
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 Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.
Li R et al.
Frontiers in Endocrinology, 2021
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC et al.
Human Mutation, 2015
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