Atypical Rett Syndrome
Last Posted: Oct 18, 2018
- Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
Lallar Meenakshi et al. Indian pediatrics 2018 55(6) 474-477
- Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.
Záhoráková D, et al. Folia biologica 2016 0 (2) 67-74
- Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
Olson Heather E, et al. American journal of medical genetics. Part A 2015 9 (9) 2017-25
- Spectrum of MECP2 Gene Mutations in a Cohort of Indian Patients with Rett Syndrome: Report of Two Novel Mutations.
Das DK, et al. Gene 2012 12
- Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Zweier Markus, et al. Human mutation 2010 6 (6) 722-33
- Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.
Nemos C, et al. Clinical genetics 2009 10 (4) 357-71
- Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.
Russo S, et al. Neurogenetics 2009 7 (3) 241-50
- Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
Archer H L, et al. Journal of medical genetics 2006 5 (5) 451-6
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