The phenotype associated with a large deletion on MECP2
- Author
- BEBBINGTON, Ami1 ; DOWNS, Jenny1 2 ; PERCY, Alan3 ; PINEDA, Mercé4 ; ZEEV, Bruria Ben5 ; BAHI-BUISSON, Nadia6 ; LEONARD, Helen1
[1] Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, Western Australia, Australia
[2] School of Physiotherapy and Curtin Health Innovation Research Institute, Perth, Western Australia, Australia
[3] Civitan International Research Centre, University of Alabama, Birmingham, AL, United States
[4] Hospital Sant Joan de Deu, Barcelona, Spain
[5] Safra Pediatric Hospital, Sheba Medical Center, Ramat-Gan, Israel
[6] Université Rene Descartes- Paris V, Hopital Necker Enfants Malades, Paris, France - Source
European journal of human genetics. 2012, Vol 20, Num 9, pp 921-927, 7 p ; ref : 36 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- large deletion phenotype rett syndrome
- Keyword (fr)
- Délétion Génétique Phénotype Syndrome de Rett Aberration chromosomique Maladie dégénérative Maladie héréditaire Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Deletion Genetics Phenotype Rett syndrome Chromosomal aberration Degenerative disease Genetic disease Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Deleción Genética Fenotipo Rett síndrome Aberración cromosómica Enfermedad degenerativa Enfermedad hereditaria Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- 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
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26255580
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
10.1038/ejhg.2012.34 
https://dx.doi.org/10.1038/ejhg.2012.34
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