Article
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Brain : a journal of neurology - 1 Dec 2023
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
Abstract excerpt
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 variants in genes encoding Pol III subunits. While approximately half of all patients carry mutations in POLR3B...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.