Title

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Document Type

Journal Article

Publication Date

2013

Journal

Journal of Medical Genetics

Volume

Volume 50, Issue 3

Inclusive Pages

194-197

Keywords

Hereditary Central Nervous System Demyelinating Diseases--genetics; Hypogonadism--genetics; Mutation; RNA Polymerase III--genetics; Tooth Abnormalities--genetics

Peer Reviewed

1