A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual
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The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL , SMC1A , SMC3 , RAD21 , and HDAC8 . On the other hand, 10q11.2 deletions cause a wide range... ...
