A triplication of the williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms
- Author
- BEUNDERS, Gea1 ; VAN DE KAMP, Jiddeke M1 ; VEENHOVEN, Reinier H2 ; VAN HAGEN, Johanna M1 ; NIEUWINT, Aggie W. M1 ; SISTERMANS, Erik A1
[1] VU University Medical Center, Department of Clinical Genetics, Amsterdam, Netherlands
[2] Spaarne Hospital, Department of Paediatrics, Hoofddorp, Netherlands - Source
Journal of medical genetics. 2010, Vol 47, Num 4, pp 271-275, 5 p ; ref : 22 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Arriération mentale Dysmorphie Grave Génétique Homme Malade Retard langage Syndrome de Williams Trouble du comportement Forme grave Aberration chromosomique Déficience intellectuelle Malformation Trouble de la communication Trouble du développement Trouble du langage
- Keyword (en)
- Mental retardation Dysmorphism Severe Genetics Human Patient Language retardation Williams syndrome Behavioral disorder Chromosomal aberration Intellectual deficiency Malformation Communication disorder Developmental disorder Language disorder
- Keyword (es)
- Retraso mental Dismorfia Grave Genética Hombre Enfermo Retardo lenguaje Williams syndrome Trastorno conducta Aberración cromosómica Deficiencia intelectual Malformación Trastorno comunicación Trastorno desarrollo Trastorno lenguaje
- 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 / 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
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 22655989
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
10.1136/jmg.2009.070490 
https://dx.doi.org/10.1136/jmg.2009.070490
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