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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

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 sporadic case.[1]

References

  1. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Musio, A., Selicorni, A., Focarelli, M.L., Gervasini, C., Milani, D., Russo, S., Vezzoni, P., Larizza, L. Nat. Genet. (2006) [Pubmed]
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