Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give rise to neurological or developmental phenotypes. P...

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Detalles Bibliográficos
Autores principales: Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O’Leary, Melanie, O’Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8557332/
https://www.ncbi.nlm.nih.gov/pubmed/34415322
http://dx.doi.org/10.1093/brain/awab124

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