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EnglishAngelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.
Maltese, A., Salerno, M., Tripi, G., Romano, P., Ricciardi, A., Folco, A., et al. (2017). The angelman syndrome: A brief review. ACTA MEDICA MEDITERRANEA, 33(4), 667-673 [10.19193/0393-6384_2017_4_100].
| Data di pubblicazione: | 2017 | |
| Titolo: | The angelman syndrome: A brief review | |
| Autori: | ||
| Citazione: | Maltese, A., Salerno, M., Tripi, G., Romano, P., Ricciardi, A., Folco, A., et al. (2017). The angelman syndrome: A brief review. ACTA MEDICA MEDITERRANEA, 33(4), 667-673 [10.19193/0393-6384_2017_4_100]. | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.19193/0393-6384_2017_4_100 | |
| Abstract: | Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe. | |
| URL: | http://www.actamedicamediterranea.com/index.php | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| THE ANGELMAN SYNDROME A BRIEF REVIEW.pdf | N/A | Open Access Visualizza/Apri |
http://hdl.handle.net/10447/242258
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