Novel double deletions in the MECP2 gene in Tunisian Rett patient
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference32 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat. Genet.,1999
2. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome;Amir;J. Med. Genet.,2005
3. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome;Archer;J. Med. Genet.,2006
4. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication;Ariani;Hum. Mutat.,2004
5. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients;Bourdon;Hum. Genet.,2001
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1. Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy;Epilepsia Open;2023-10-23
2. Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy;2023-06-12
3. Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome;Journal of Child Neurology;2017-04-11
4. Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in rett syndrome;American Journal of Medical Genetics Part A;2013-05-21
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