Response to a letter to the editor
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10048-023-00721-z.pdf
Reference6 articles.
1. Huynh M-T, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C (2021) Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems. Neurogenetics 22:195–206. https://doi.org/10.1007/s10048-021-00653-6
2. Hashimoto S, Boissel S, Zarhrate M, Rio M, Munnich A, Egly J-M, Colleaux L (2011) MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science 333:1161–1163. https://doi.org/10.1126/science.1206638
3. Trehan A, Brady JM, Maduro V, Bone WP, Huang Y, Golas GA, Kane MS, Lee PR, Thurm A, Gropman AL et al (2015) MED23-associated intellectual disability in a non-consanguineous family. Am J Med Genet A 167:1374–1380. https://doi.org/10.1002/ajmg.a.37047
4. Hashemi-Gorji F, Fardaei M, Tabei SMB, Miryounesi M (2019) Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. Clin Case Rep 7:331–335. https://doi.org/10.1002/ccr3.1942
5. Salzano E, Niceta M, Pizzi S, Radio FC, Busè M, Mercadante F, Barresi S, Ferrara A, Mancini C, Tartaglia M et al (2023) Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly. Front Neurol 14:1090082. https://doi.org/10.3389/fneur.2023.1090082
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