Deletion screening by fluorescence in situ hybridization in Rett syndrome patients
Author:
Publisher
Elsevier BV
Subject
Genetics
Reference27 articles.
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2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat. Genet.,1999
3. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes;Amir;Ann. Neurol.,2000
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5. MECP2 mutations account for most cases of typical forms of Rett syndrome;Bienvenu;Hum. Mol. Genet.,2000
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1. Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2;Brain and Development;2012-08
2. Novel double deletions in the MECP2 gene in Tunisian Rett patient;Gene;2012-07
3. Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders;Twin Research and Human Genetics;2010-04-01
4. Rapid Detection of Deletions in Hotspot C-Terminal Segment Region of MECP2 by Routine PCR Method: Report of Two Classical Rett Syndrome Patients of Indian Origin;Genetic Testing and Molecular Biomarkers;2009-04
5. Feeding and swallowing dysfunction in genetic syndromes;Developmental Disabilities Research Reviews;2008
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