New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genet...
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Autores principales: | , , , , , , , , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Public Library of Science (PLoS)
2021
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Acceso en línea: | https://doaj.org/article/c8b99d9ba519460485d60cbe70c718d7 |
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