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Last Updated: 10/31/2025
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Found 282 publications
Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 10, 2025
Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.
Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025
MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.
Journal: Clinical genetics
Published: August 11, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.
Journal: Journal of human genetics
Published: August 01, 2025
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.
Journal: Developmental medicine and child neurology
Published: July 18, 2025
Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.
Journal: Genes
Published: April 30, 2025
Correspondence on "Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder" by Rawlins et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 20, 2025
Exploring Pontocerebellar Hypoplasia Type 1C: A Case Study of the 6th Family with The EXOSC8 Gene Mutation.
Journal: Annals of Indian Academy of Neurology
Published: April 20, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Journal: International journal of molecular sciences
Published: March 28, 2025
Pontocerebellar hypoplasia: a review from 1912 to 2022.
Journal: Brain communications
Published: March 06, 2025
Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
Published: March 05, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Journal: American journal of human genetics
Published: February 11, 2025
Last Updated: 10/31/2025