Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28
- Author
- REARDON, William1 ; DONOGHUE, Veronica2 ; MURPHY, Anne-Marie2 ; KING, Mary D2 ; MAYNE, Philip D2 ; HORN, Nina3 ; BIRK MOLLER, Lisbeth3
[1] Regional Hospital, Dooradoyle, Limerick, Ireland
[2] Children's University Hospital, Temple St, Dublin, Ireland
[3] Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark - Source
European journal of pediatrics. 2010, Vol 169, Num 8, pp 941-949, 9 p ; ref : 11 ref
- CODEN
- EJPEDT
- ISSN
- 0340-6199
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Cerebellar atrophy MECP2 X-linked mental retardation Xq28 duplication
- Keyword (fr)
- Arriération mentale Atrophie Caractère lié au sexe Cervelet Changement Chromosome X Duplication Grave Progressif Pédiatrie Syndrome Forme grave Déficience intellectuelle Encéphale Système nerveux central Trouble du développement
- Keyword (en)
- Mental retardation Atrophy Sex linked character Cerebellum Change X-Chromosome Duplication Severe Progressive Pediatrics Syndrome Intellectual deficiency Encephalon Central nervous system Developmental disorder
- Keyword (es)
- Retraso mental Atrofia Carácter ligado al sexo Cerebelo Cambio Cromosoma X Duplicación Grave Progresivo Pediatría Síndrome Deficiencia intelectual Encéfalo Sistema nervioso central Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03L Intellectual deficiency
- Discipline
- Generalities in medical sciences Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 22956575
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
10.1007/s00431-010-1144-4 
https://dx.doi.org/10.1007/s00431-010-1144-4
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