Associated Papers
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.
Rigotti L et al.
American Journal of Medical Genetics. Part A, 2025
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Shangguan H et al.
Frontiers in Pediatrics, 2022
35935361 (PubMed )
Supplement: Table_1.XLSX › Table_S3
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
De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome.
Thanh DC et al.
Medicina (kaunas, Lithuania), 2020
Cervical spine malformation in cornelia de lange syndrome: a report of three patients.
Bettini LR et al.
American Journal of Medical Genetics. Part A, 2014
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