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NIPBL

      
For parents, caregivers, health care providers, and teachers, concerns and questions often arise regarding the care and well-being of individuals with Cornelia de Lange syndrome. 

The NIPBL gene codes for a protein which is part of the regulatory centre of cohesin and, along with another gene (MAU2) helps the ring to be loaded onto the duplicated DNA. Changes (mutations) in NIPBL can be found in approximately 70% of individuals with CdLS. 

Classic CdLS is usually caused by changes in NIPBL.


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