Condition: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism


rs1217230904 in POLR3A gene and Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism PMID 22036171 2011 Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.

PMID 21855841 2011 Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

PMID 23694757 2014 Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

PMID 23355746 2013 Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.

PMID 614258 1977 Clear cell sarcoma of tendons and aponeurosis--a case report.