Special clinical entity with 15q26 deletion: a novel case report
Author:
Funder
Science and technology projects of Guizhou Province
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12041-024-01468-8.pdf
Reference22 articles.
1. Bernardo P., Galletta D., Iasevoli F., D’Ambrosio L., Troisi S., Gennaro E. et al. 2017 CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation. Seizure 51, 186–189.
2. Capelli L. P., Krepischi A. C. V., Gurgel-Giannetti J., Mendes M. F., Rodrigues T., Varela M. C. et al. 2012 Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur. J. Med. Genet. 55, 132–134.
3. Chen J., Zhang J., Liu A., Zhang L., Li H., Zeng Q. et al. 2020 CHD2-related epilepsy: novel mutations and new phenotypes. Dev. Med. Child. Neurol. 62, 647–653.
4. Chénier S., Yoon G., Argiropoulos B., Lauzon J., Laframboise R., Ahn J. W. et al. 2014 CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. J. Neurodev. Disord. 6, 9.
5. Courage C., Houge G., Gallati S., Schjelderup J. and Rieubland C. 2014 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. Eur. J. Med. Genet. 57, 520–523.
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