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Last Updated: 10/31/2025

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Found 76 publications

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

POLR3B-Related Hypomyelinating Leukodystrophy Type 8 (4H Syndrome): A Case Series of Two Siblings.

Journal: Cureus
Published: August 21, 2025

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Comprehensive genotype-phenotype analysis in POLR3-related disorders.

Journal: HGG advances
Published: April 18, 2025

POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages.

POLR3 gene and protein expression dynamics in 4H leukodystrophy using iPSC-derived neuronal lineages.

Journal: Stem cell research
Published: November 30, 2024

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Journal: eLife
Published: November 05, 2024

Hypomyelination Leukodystrophy Type 11 (HLD11) Presenting with Diabetes: A Case Report and Literature Review.

Hypomyelination Leukodystrophy Type 11 (HLD11) Presenting with Diabetes: A Case Report and Literature Review.

Journal: Sage open pediatrics..
Published: April 30, 2024

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Molecular basis of neurodegeneration in a mouse model of Polr3-related disease.

Journal: bioRxiv : the preprint server for biology
Published: January 03, 2024

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy.

Journal: Human mutation
Published: November 09, 2023

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.

Journal: AACE clinical case reports
Published: September 30, 2023

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Journal: Journal of the peripheral nervous system : JPNS
Published: September 07, 2023

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.

Journal: Scientific reports
Published: September 06, 2023

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.

Journal: Frontiers in neurology
Published: July 29, 2023

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Journal: Frontiers in neurology
Published: July 06, 2023
Showing 1-12 of 76

Last Updated: 10/31/2025