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P1: Detailed molecular characterization of a Swedish cohort of Cornelia de Lange syndrome patients

✍ Scribed by Jacqueline Schoumans; Paula Maguire; Johan Staaf; Göran Jönsson; Claudia Ruivenkamp; Ann-Charlotta Thuresson; Ann Nordgren; Gunilla Malm; Åke Borg; Elisabeth Blennow; Britt-Marie Anderlid; Magnus Nordenskjöld


Book ID
116432844
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
53 KB
Volume
48
Category
Article
ISSN
1769-7212

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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