A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem
Author:
Funder
Spanish Instituto de Salud Carlos III (ISCIII) and the European Regional Development Fund
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-019-1165-3.pdf
Reference15 articles.
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2. Garbade S. F., Boy N., Heringer J., Kolker S. and Harting I. 2018 Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI. Neuropediatrics 49, 269–275.
3. Hokkanen S., Feldmann H. M., Ding H., Jung C. K., Bojarski L., Renner-Muller I. et al. 2012 Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum. Mol. Genet. 21, 473–484.
4. Hunt D., Leventer R. J., Simons C., Taft R., Swoboda K. J., Gawne-Cain M. et al. 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. J. Med. Genet. 51, 806–813.
5. Khalili K., Del Valle L., Muralidharan V., Gault W. J., Darbinian N., Otte J. et al. 2003 Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol. Cell Biol. 23, 6857–6875.
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1. Heterozygous c.175C>T variant in PURA gene causes severe developmental delay;Clinical Case Reports;2023-09
2. A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature;International Journal of Developmental Neuroscience;2023-05-19
3. Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options;International Journal of Molecular Sciences;2023-01-23
4. A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations;European Journal of Human Genetics;2022-11-14
5. Structural Protein Effects Underpinning Cognitive Developmental Delay of the PURA p.Phe233del Mutation Modelled by Artificial Intelligence and the Hybrid Quantum Mechanics–Molecular Mechanics Framework;Brain Sciences;2022-06-30
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