Rett syndrome in a 47,XXX patient with a de novoMECP2 mutation
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference21 articles.
1. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
2. MECP2 mutations account for most cases of typical forms of Rett syndrome
3. Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms
4. Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome
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1. Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant;Molecular Genetics & Genomic Medicine;2020-01-13
2. Epigenetic regulation of nervous system development by DNA methylation and histone deacetylation;Progress in Neurobiology;2009-07
3. A novelCDKL5mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome;American Journal of Medical Genetics Part A;2009-02
4. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome;European Journal of Paediatric Neurology;2007-07
5. Differential distribution of theMeCP2 splice variants in the postnatal mouse brain;The Journal of Comparative Neurology;2007
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