http://www.cnr.it/ontology/cnr/individuo/prodotto/ID55846
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)
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- 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)
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- Pagina fine
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- Rivista
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- 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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