The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
- Author
- VAN BON, Bregje W. M1 ; KOOLEN, David A1 ; DALLA BERNARDINA, Bernardo7 ; ZOCCANTE, Leonardo7 ; BALOTTIN, Umberto7 ; PIAZZA, Fausta7 ; PECILE, Vanna8 ; GASPARINI, Paolo9 ; GUERCI, Veronica9 ; KETS, Marleen1 ; PFUNDT, Rolph1 ; DE BROUWER, Arjan P1 ; BRUETON, Louise2 ; VELTMAN, Joris A1 ; DE LEEUW, Nicole1 ; WILSON, Meredith10 ; ANTONY, Jayne10 ; REITANO, Santina11 ; LUCIANO, Daniela12 ; FICHERA, Marco12 ; ROMAN, Corrado11 ; BRUNNER, Han G1 ; ZUFFARDI, Orsetta13 14 ; MCMULLAN, Dominic2 ; DE VRIES, Bert B. A1 ; LICHTENBELT, Klaske D3 ; ADES, Lesley C4 ; PETERS, Gregory4 ; GIBSON, Kate5 ; NOVARA, Francesca6 ; PRAMPARO, Tiziano6
[1] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[2] Division of Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom
[3] Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, Netherlands
[4] Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
[5] Genetic Health Queensland, Royal Brisbane and Women's Hospital, Queensland, Australia
[6] Medical Genetics, University of Pavia, Pavia, Italy
[7] Child Neuropsychiatry Unit, University of Verona, Policlinico G.B. Rossi, Verona, Italy
[8] Cytogenetics Laboratory, IRCCS Burlo Garafano, Trieste, Italy
[9] Medical Genetics, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy
[10] Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia
[11] Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
[12] Laboratory of Genetic Diagnosis, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy
[13] Genetica Medica, Università di Pavia, Pavia, Italy
[14] IRCCS Fondazione C. Mondino, Pavia, Italy - Source
European journal of human genetics. 2010, Vol 18, Num 2, pp 163-170, 8 p ; ref : 27 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- 2q23.1 Angelman EPC2 MBD5 Rett microdeletion
- Keyword (fr)
- Génétique Phénotype Microdélétion
- Keyword (en)
- Genetics Phenotype Microdeletion
- Keyword (es)
- Genética Fenotipo Microdeletion
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22422848
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.2009.152 
https://dx.doi.org/10.1038/ejhg.2009.152
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arXiv access
