Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.

Gervasini, C., Picinelli, C., Azzollini, J., Rusconi, D., Masciadri, M., Cereda, A., Marzocchi, C., Zampino, G., Selicorni, A., Tenconi, R., Russo, S., Larizza, L., Finelli, P., Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome, <<BMC MEDICAL GENETICS>>, 2013; 14 (Aprile): 41-41. [doi:10.1186/1471-2350-14-41] [http://hdl.handle.net/10807/53713]

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Zampino, Giuseppe;Russo, Serena;
2013

Abstract

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.
2013
Inglese
Gervasini, C., Picinelli, C., Azzollini, J., Rusconi, D., Masciadri, M., Cereda, A., Marzocchi, C., Zampino, G., Selicorni, A., Tenconi, R., Russo, S., Larizza, L., Finelli, P., Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome, <<BMC MEDICAL GENETICS>>, 2013; 14 (Aprile): 41-41. [doi:10.1186/1471-2350-14-41] [http://hdl.handle.net/10807/53713]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/53713
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