Article
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2016
Cereda Anna, Mariani Milena, Rebora Paola, Sajeva Anna, Ajmone Paola Francesca, Gervasini Cristina, Russo Silvia, Kullmann Gaia, Valsecchi Grazia, Selicorni Angelo
Abstract excerpt
Cornelia de Lange syndrome is a well-known multiple congenital anomalies/intellectual disability syndrome with genetic heterogeneity and wide clinical variability, regarding the severity of both the intellectual disabilities and the physical features, not completely explained by the genotype-phenotype correlations known to date. The aim of the study was the identification of prognostic features, ascertainable...
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