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Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

✍ Scribed by Gervasini, Cristina; Parenti, Ilaria; Picinelli, Chiara; Azzollini, Jacopo; Masciadri, Maura; Cereda, Anna; Selicorni, Angelo; Russo, Silvia; Finelli, Palma; Larizza, Lidia

Book ID: 125424868
Publisher: Elsevier Science
Year: 2013
Tongue: English
Weight: 683 KB
Volume: 56
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.12.009

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## Abstract Cornelia de Lange syndrome (CdLS) manifests facial dysmorphic features, growth and cognitive impairment, and limb malformations. Mutations in three genes (__NIPBL__, __SMC1A__, and __SMC3__) of the cohesin complex and its regulators have been found in affected patients. Here, we present