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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Detalles Bibliográficos
Autores principales: Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519432/
https://www.ncbi.nlm.nih.gov/pubmed/34653234
http://dx.doi.org/10.1371/journal.pone.0258766

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519432/
https://www.ncbi.nlm.nih.gov/pubmed/34653234
http://dx.doi.org/10.1371/journal.pone.0258766

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