Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation
- Author
- HAMMER, Sara1 ; DORRANI, Naghmeh1 ; HARTIALA, Jaana1 ; STEIN, Stuart2 3 ; SCHANEN, N. Carolyn1 4
[1] Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, United States
[2] Department of Pediatrics and Neurology Research Laboratory, Eastern Maine Medical Center, Bangor, Maine, United States
[3] Departments of Animal and Veterinary Sciences, Biochemistry, Microbiology, and Molecular Biology, and Biological Sciences, University of Maine, Orono, Maine, United States
[4] Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States - Source
American journal of medical genetics. = Neuropsychiatric genetics. 2003, Vol 122A, Num 3, pp 223-226, 4 p ; ref : 21 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- MECP2 Rett syndrome X-chromosome trisomy
- Keyword (fr)
- Chromosome X De novo Homme Mutation Rett syndrome Trisomie Aberration chromosomique Aneuploïdie Encéphale pathologie Maladie dégénérative Maladie héréditaire Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- X-Chromosome De novo Human Mutation Rett syndrome Trisomy Chromosomal aberration Aneuploidy Cerebral disorder Degenerative disease Genetic disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Cromosoma X De novo Hombre Mutación Rett síndrome Trisomía Aberración cromosómica Aneuploidía Encéfalo patología Enfermedad degenerativa Enfermedad hereditaria Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 15135764
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.20320 
https://dx.doi.org/10.1002/ajmg.a.20320
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