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.
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