| Another patient with MECP2 mutation without classic Rett syndrome phenotype. | |
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MedLine Citation:
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PMID: 15866439 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Rett syndrome and Angelman syndrome are two neurodevelopmental disorders characterized by partial overlapping features. Rett syndrome is frequently caused by a mutation in methyl-CpG-binding protein (MECP2) gene, localized on chromosome Xq28, whereas Angelman syndrome is frequently caused by different genetic anomalies at chromosome 15q11-q13 (deletions, uniparental disomy, imprinting center mutations, ubiquitin E3 ligase [UBE3A] gene mutations). Recently, some patients with a clinical diagnosis of Angelman syndrome were found to have a mutation in MECP2 gene. This report describes another patient with an Angelman-like phenotype and with an MECP2 mutation. |
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Authors:
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Donatella Milani; Chiara Pantaleoni; Stefano D'Arrigo; Angelo Selicorni; Daria Riva |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 32 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2005 May |
Date Detail:
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Created Date: 2005-05-03 Completed Date: 2005-07-08 Revised Date: 2006-05-23 |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 355-7 Citation Subset: IM |
Affiliation:
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Pediatric Department, Istituti Clinici di Perfezionamento, University of Milan, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Angelman Syndrome
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genetics*,
physiopathology* Child, Preschool Chromosomal Proteins, Non-Histone / genetics* DNA-Binding Proteins / genetics* Female Humans Methyl-CpG-Binding Protein 2 Phenotype Point Mutation Repressor Proteins / genetics* Rett Syndrome / genetics*, physiopathology* |
| Chemical | |
Reg. No./Substance:
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0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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