X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

  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},
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
Highly Influential
This paper has highly influenced 21 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
177 Citations
1 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 177 extracted citations


Publications referenced by this paper.

NATURE GENETICS BR I E F COMMUN ICAT I ONS © 20 06 N at ur e P ub lis hi ng G ro up

  • A. Egemen, Z. Ulger, F. Ozkinay, F. Gulen, Cogulu, O. Genet. Couns
  • MAY
  • 2006

Similar Papers

Loading similar papers…