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In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

✍ Scribed by Nicole Hoppman-Chaney; Jin Sung Jang; Jin Jen; Dusica Babovic-Vuksanovic; Jennelle C. Hodge


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
292 KB
Volume
158A
Category
Article
ISSN
1552-4825

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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