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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810.
Nat Genet. 1999.
PMID: 10508514
The incidence of Rett syndrome in France.
Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
Bienvenu T, et al.
Pediatr Neurol. 2006 May;34(5):372-5. doi: 10.1016/j.pediatrneurol.2005.10.013.
Pediatr Neurol. 2006.
PMID: 16647997
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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.
Vidal S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M; Rett Working Group; Armstrong J.
Vidal S, et al.
Mol Genet Genomic Med. 2019 Aug;7(8):e793. doi: 10.1002/mgg3.793. Epub 2019 Jun 17.
Mol Genet Genomic Med. 2019.
PMID: 31206249
Free PMC article.
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