A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome
- Author
- DAUWERSE, Johannes G1 ; DE VRIES, Bert B. A2 ; WOUTERS, Cokkie H3 ; BAKKER, Egbert1 ; RAPPOLD, Gudrun4 ; MORTIER, Geert R5 ; BREUNING, Martijn H1 ; PETERS, Dorien J. M1
[1] Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
[2] Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[3] Clinical Genetics Center Rotterdam, Rotterdam, Netherlands
[4] institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
[5] Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium - Source
European journal of human genetics. 2007, Vol 15, Num 7, pp 743-751, 9 p ; ref : 14 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- MBOAT1 MBOAT O-acetyl transferase brachydactyly-syndactyly short stature t(4;6)
- Keyword (fr)
- Brachydactylie Doigt Gène Génétique Homme Malade Malformation Membre supérieur Retard staturopondéral Syndactylie Syndrome Transferases Translocation chromosomique Aberration chromosomique Chromosome anormal Dysostose Enzyme Maladie héréditaire Pathologie de la main Pathologie du système ostéoarticulaire
- Keyword (en)
- Brachydactyly Finger Gene Genetics Human Patient Malformation Upper limb Growth retardation Syndactyly Syndrome Transferases Chromosome translocation Chromosomal aberration Abnormal chromosome Dysostosis Enzyme Genetic disease Disease of the hand Diseases of the osteoarticular system
- Keyword (es)
- Braquidactilia Dedo Gen Genética Hombre Enfermo Malformación Miembro superior Retraso pondoestatural Sindactilia Síndrome Transferases Translocación cromosómica Aberración cromosómica Cromosoma anormal Disostosis Enzima Enfermedad hereditaria Mano patología Sistema osteoarticular patología
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20310778
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/sj.ejhg.5201833 
https://dx.doi.org/10.1038/sj.ejhg.5201833
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