Article
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.
European journal of medical genetics - 1 Jan 2026
Buoncuore Giorgia, Salvatore Marco, Rocchetti Adele, Facciaroni Lorenzo, Veneselli Edvige, Elia Maurizio, Russo Silvia, Armando Michelina, Germano Michele, Prisco Tommaso, Sartori Stefano, Marinella Gemma, Battini Roberta, Gobbi Giuseppe, Torreri Paola
Abstract excerpt
BACKGROUND: Angelman syndrome (AS) is a rare and heterogeneous genetic disorder characterized by intellectual and psychomotor delay, speech deficits, seizures and behavioural issues. To evaluate the feasibility of collecting data by many Italian centers involved in pathology management, and to investigate the relationship between various symptoms and genotypes, a dedicated AS registry was developed. This study...
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