X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

@article{Musio2006XlinkedCD,
  title={X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations},
  author={Antonio Musio and Angelo Selicorni and Maria Luisa Focarelli and Cristina Giovanna Gervasini and Donatella Milani and Silvia Russo and Paolo Vezzoni and L Larizza},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={528-530}
}
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by facial dysmorphisms, upper limb abnormalities, growth delay and cognitive retardation. Mutations in the NIPBL gene, a component of the cohesin complex, account for approximately half of the affected individuals. We report here that mutations in SMC1L1 (also known as SMC1), which encodes a different subunit of the cohesin complex, are responsible for CdLS in three male members of an affected family and in one… CONTINUE READING
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  • A. Egemen, Z. Ulger, F. Ozkinay, F. Gulen, Cogulu, O. Genet. Couns
  • MAY
  • 2006

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