Article
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
Journal of medical genetics - 1 Mar 2013
Daoud Hussein, Tétreault Martine, Gibson William, Guerrero Kether, Cohen Ana, Gburek-Augustat Janina, Synofzik Matthis, Brais Bernard, Stevens Cathy A, Sanchez-Carpintero Rocio, Goizet Cyril, Naidu Sakkubai, Vanderver Adeline, Bernard Geneviève
Abstract excerpt
BACKGROUND: Leukodystrophies are a heterogeneous group of inherited neurodegenerative disorders characterised by abnormal central nervous system white matter. Mutations in POLR3A and POLR3B genes were recently reported to cause four clinically overlapping hypomyelinating leukodystrophy phenotypes. Our aim was to investigate the presence and frequency of POLR3A and POLR3B mutations in patients with genetically...
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