2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene
- Author
- ROORYCK, Caroline1 2 ; STEF, Marianne1 ; BURGELIN, Ingrid1 ; SIMON, Delphine1 ; SOUAKRI, Noui1 ; THAMBO, Jean-Benoît3 ; CHATEIL, Jean-François4 ; LACOMBE, Didier1 2 ; ARVEILER, Benoît1 2
[1] Laboratoire de Génétique Humaine (EA4137), Université Victor Segalen Bordeaux 2, France
[2] Service de Génétique Médicale, Hôpital Pellegrin-Enfants, CHU de Bordeaux, France
[3] Service de Cardiologie Pédiatrique, CHU de Bordeaux, France
[4] Service de Radiologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, France - Source
European journal of medical genetics. 2009, Vol 52, Num 6, pp 446-449, 4 p ; ref : 15 ref
- Publisher
- Elsevier, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Author keyword
- 12p13.33 deletion CACNA1C Goldenhar syndrome Oculoauriculovertebral spectrum WNT5B
- Keyword (fr)
- Canal ionique Dysplasie oculoauriculovertébrale de Goldenhar Délétion Déterminisme génétique Evaluation Génétique Homme Ion calcium Pathogénie Spectre Terminal Aberration chromosomique Dysostose Pathologie ORL Pathologie de la peau Pathologie du système ostéoarticulaire
- Keyword (en)
- Ionic channel Goldenhar syndrome Deletion Genetic determinism Evaluation Genetics Human Calcium ion Pathogenesis Spectrum Terminal Chromosomal aberration Dysostosis ENT disease Skin disease Diseases of the osteoarticular system
- Keyword (es)
- Canal iónico Displasia oculoauriculovertebral Goldenhar Deleción Determinismo genético Evaluación Genética Hombre Calcio ión Patogenia Espectro Terminal Aberración cromosómica Disostosis ORL patología Piel patología Sistema osteoarticular patología
- Classification
- 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 / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- 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 Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22171691
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
10.1016/j.ejmg.2009.08.005 
https://dx.doi.org/10.1016/j.ejmg.2009.08.005
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