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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 / 002B01 General aspects

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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