Cornelia de Lange Syndrome.

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000-100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a "transcriptomopathy" or "cohesinopathy." The phenotype and presentation vary...

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