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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
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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
![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)
The characteristic craniofacial features of Cornelia de Lange syndrome. | Download Scientific Diagram
![Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. | Semantic Scholar Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/6b6f6ff1d735896ec81751358ca5b80e9d29b9cd/2-Figure1-1.png)
Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. | Semantic Scholar
Madmoiz'elle Mya: son quotidien avec le syndrome cornelia de lange. - Bonsoir !! Mya passe de bonnes vacances ! Entre journée grasse mat', grosse sieste Et levé très tôt mais zéro sieste
![Facial and Other Dysmorphisms of 3 Chinese Cornelia de Lange Syndrome... | Download Scientific Diagram Facial and Other Dysmorphisms of 3 Chinese Cornelia de Lange Syndrome... | Download Scientific Diagram](https://www.researchgate.net/publication/323226784/figure/fig1/AS:614165722955779@1523439927048/Facial-and-Other-Dysmorphisms-of-3-Chinese-Cornelia-de-Lange-Syndrome-Neonates-All-three.png)