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Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes

✍ Scribed by C Gervasini; R Pfundt; P Castronovo; S Russo; G Roversi; M Masciadri; D Milani; G Zampino; A Selicorni; EFPM Schoenmakers; L Larizza


Book ID
110888691
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
330 KB
Volume
74
Category
Article
ISSN
0009-9163

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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