Associated Papers
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.
Vilella T et al.
Bmc Ophthalmology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M et al.
Journal of Medical Genetics, 2014
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