Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
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| Title: | Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. |
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| Authors: | Verdura, Edgard1,2, Rodríguez-Palmero, Agustí1,3, Vélez-Santamaria, Valentina1,4, Planas-Serra, Laura1,2, de la Calle, Irene1, Raspall-Chaure, Miquel5,6, Roubertie, Agathe7,8, Benkirane, Mehdi9, Saettini, Francesco10, Pavinato, Lisa11, Mandrile, Giorgia12, O'Leary, Melanie13, O'Heir, Emily13, Barredo, Estibaliz14, Chacón, Almudena14, Michaud, Vincent15,16, Goizet, Cyril16,17, Ruiz, Montserrat1,2, Schlüter, Agatha1,2, Rouvet, Isabelle18 |
| Source: | Brain: A Journal of Neurology; Sep2021, Vol. 144 Issue 9, p2659-2669, 11p |
| Database: | Applied Science & Technology Source |
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