![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
![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
![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
![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
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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis - Basel‐Vanagaite - 2016 - Clinical Genetics - Wiley Online Library
CENTOGENE - Did you know? #DUK Cornelia de Lange #Didyouknow Cornelia de Lange syndrome (CdLS) is a syndromic disorder, with symptoms that include distinctive facial features including arched eyebrows that often meet
![What are the Physical Characteristics of Cornelia de Lange Syndrome - CdLS Foundation UK and Ireland What are the Physical Characteristics of Cornelia de Lange Syndrome - CdLS Foundation UK and Ireland](https://www.cdls.org.uk/media/images/CdLS%20Figure%203.png)