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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

ISSN
1018-4813
Scientific domain
Genetics
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

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics

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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