Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference16 articles.
1. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.;Timmons;Neurology,2006
2. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.;Bernard;Am J Hum Genet,2011
3. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.;Daoud;J Med Genet,2013
4. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.;Gauquelin;Neurol Genet,2019
5. Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C.;Pelletier;J Clin Endocrinol Metab,2021
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1. POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy;Seizure: European Journal of Epilepsy;2024-10
2. A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum;Brain Sciences;2023-11-08
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