X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (Articolo in rivista)

Type
Label
  • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (Articolo in rivista) (literal)
Anno
  • 2006-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/ng1779 (literal)
Alternative label
  • Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. (2006)
    X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    in Nature genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. (literal)
Pagina inizio
  • 528 (literal)
Pagina fine
  • 530 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 38 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Istituto di Ricerca Genetica e Biomedica, CNR (literal)
Titolo
  • X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations (literal)
Abstract
  • 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 (literal)
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