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Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A

✍ Scribed by Giuseppe Limongelli; Silvia Russo; Maria Cristina Digilio; Maura Masciadri; Giuseppe Pacileo; Fiorella Fratta; Francesca Martone; Valeria Maddaloni; Raffaella D'Alessandro; Paolo Calabro; Maria Giovanna Russo; Raffaele Calabro; Lidia Larizza


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
149 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Mutations and variants in the cohesion f
✍ Juan PiΓ©; MarΓ­a ConcepciΓ³n Gil-RodrΓ­guez; Milagros Ciero; Eduardo LΓ³pez-ViΓ±as; M πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 198 KB πŸ‘ 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