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Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation

✍ Scribed by Matthew A. Deardorff; Maninder Kaur; Dinah Yaeger; Abhinav Rampuria; Sergey Korolev; Juan Pie; Concepcion Gil-Rodríguez; María Arnedo; Bart Loeys; Antonie D. Kline; Meredith Wilson; Kaj Lillquist; Victoria Siu; Feliciano J. Ramos; Antonio Musio; Laird S. Jackson; Dale Dorsett; Ian D. Krantz


Book ID
117854971
Publisher
American Society of Human Genetics
Year
2007
Tongue
English
Weight
677 KB
Volume
80
Category
Article
ISSN
0002-9297

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Mutations and variants in the cohesion f
✍ Juan Pié; María Concepción Gil-Rodríguez; Milagros Ciero; Eduardo López-Viñas; M 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 198 KB 👁 2 views

## 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