17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations
- Author
- VERGULT, Sarah1 ; DAUBER, Andrew2 ; MOHAMMED, Shehla6 ; OGILVIE, Caroline6 ; CROLLA, John7 ; MORTIER, Geert4 ; MENTEN, Bjorn1 ; DELLE CHIAIE, Barbara1 ; VAN OUDENHOVE, Elke1 ; SIMON, Marleen3 ; RIHANI, Ali1 ; LOEYS, Bart1 4 ; HIRSCHHORN, Joel2 ; PFOTENHAUER, Jean5 ; PHILLIPS, John A5
[1] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
[2] Division of Endocrinology, Children's Hospital Boston, Boston, MA, United States
[3] Department of Clinical Genetics, Erasmus Medical Centre Rotterdam, Rotterdam, Netherlands
[4] Department for Medical Genetics, Antwerp, Belgium
[5] Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN, United States
[6] Regional Genetics Centre Guy's Hospital, London, United Kingdom
[7] Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, United Kingdom - Source
European journal of human genetics. 2012, Vol 20, Num 5, pp 534-539, 6 p ; ref : 46 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- 17q24.2 deletion PRKCA array CGH hallucinations mood swings
- Keyword (fr)
- Affect affectivité Arriération mentale Déficience intellectuelle Délétion Etat nutritionnel Génétique Hallucination Handicap Obésité Tronc Microdélétion Aberration chromosomique Trouble de la nutrition Trouble du développement
- Keyword (en)
- Affect affectivity Mental retardation Intellectual deficiency Deletion Nutritional status Genetics Hallucination Handicap Obesity Trunk Microdeletion Chromosomal aberration Nutrition disorder Developmental disorder
- Keyword (es)
- Afecto afectividad Retraso mental Deficiencia intelectual Deleción Estado nutricional Genética Alucinación Discapacidad Obesidad Tronco Microdeletion Aberración cromosómica Trastorno nutricíon Trastorno desarrollo
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- 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
- 25835659
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.2011.239 
https://dx.doi.org/10.1038/ejhg.2011.239
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