![A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death | Journal of Clinical Pathology A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death | Journal of Clinical Pathology](https://jcp.bmj.com/content/jclinpath/67/3/283/F1.large.jpg)
A novel mutation in NIPBL3 in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death | Journal of Clinical Pathology
![Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 - Infante - 2017 - Clinical Case Reports - Wiley Online Library Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 - Infante - 2017 - Clinical Case Reports - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/be233542-5b59-43db-b131-fbeac927660a/ccr31010-fig-0001-m.jpg)
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3 - Infante - 2017 - Clinical Case Reports - Wiley Online Library
![Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome](https://www.mdpi.com/medicina/medicina-56-00076/article_deploy/html/images/medicina-56-00076-g001.png)
Medicina | Free Full-Text | De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome
![A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S176972121830363X-gr1.jpg)
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype - ScienceDirect
![Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fejhg.2011.175/MediaObjects/41431_2012_Article_BFejhg2011175_Fig3_HTML.jpg)
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction | European Journal of Human Genetics
![Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0378111913017228-gr1.jpg)
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case - ScienceDirect
![The characteristic craniofacial features of Cornelia de Lange syndrome. | Download Scientific Diagram The characteristic craniofacial features of Cornelia de Lange syndrome. | Download Scientific Diagram](https://www.researchgate.net/publication/234100200/figure/fig5/AS:324129615040526@1454289930690/The-characteristic-craniofacial-features-of-Cornelia-de-Lange-syndrome.png)