Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogonadism. POLR3-HLD is caused by biallelic pathogenic...

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Detalles Bibliográficos
Autores principales: Michell-Robinson, Mackenzie A, Watt, Kristin E N, Grouza, Vladimir, Macintosh, Julia, Pinard, Maxime, Tuznik, Marius, Chen, Xiaoru, Darbelli, Lama, Wu, Chia-Lun, Perrier, Stefanie, Chitsaz, Daryan, Uccelli, Nonthué A, Liu, Hanwen, Cox, Timothy C, Müller, Christoph W, Kennedy, Timothy E, Coulombe, Benoit, Rudko, David A, Trainor, Paul A, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690025/
https://www.ncbi.nlm.nih.gov/pubmed/37635302
http://dx.doi.org/10.1093/brain/awad249

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10690025/
https://www.ncbi.nlm.nih.gov/pubmed/37635302
http://dx.doi.org/10.1093/brain/awad249

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