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Simultaneous analysis of the behavioural phenotype, physical factors, and parenting stress in people with Cornelia de Lange syndrome

✍ Scribed by J. Wulffaert; I. van Berckelaer-Onnes; P. Kroonenberg; E. Scholte; Z. Bhuiyan; R. Hennekam

Book ID: 114741239
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 324 KB
Volume: 53
Category: Article
ISSN: 0964-2633
DOI: 10.1111/j.1365-2788.2009.01185.x

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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