Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation
- Author
- FENG ZHAO1 ; WEISMANN, Constance G1 ; SATODA, Masahiko1 ; PIERPONT, Mary Ella M2 ; SWEENEY, Elizabeth3 ; THOMPSON, Elizabeth M4 ; GELB, Bruce D1 5
[1] Department of Pediatrics, Mount Sinai School of Medicine, New York, United States
[2] Department of Pediatrics, University ofMinnesota, Minneapolis, United States
[3] Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital, Liverpool, United Kingdom
[4] South Australian Clinical Genetics Service, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, Australia
[5] Department of Human Genetics, Mount Sinai School of Medicine, New York, United States - Source
American journal of human genetics. 2001, Vol 69, Num 4, pp 695-703 ; ref : 26 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Canal artériel Cellule Corrélation DNA Développement Etiologie Etude familiale Face Facteur transcription Génotype Homme In vitro Main Maladie Mutation Pathogénie Phénotype Prévalence Responsabilité Typage Epidémiologie
- Keyword (en)
- Ductus arteriosus Cell Correlation DNA Development Etiology Family study Face Transcription factor Genotype Human In vitro Hand Disease Mutation Pathogenesis Phenotype Prevalence Responsibility Typing Epidemiology
- Keyword (es)
- Conducto arterial Célula Correlación DNA Desarrollo Etiología Estudio familiar Cara Factor transcripción Genotipo Hombre In vitro Mano Enfermedad Mutación Patogenia Fenotipo Prevalencia Responsabilidad Tipificación Epidemiología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14147760
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
10.1086/323410 
https://dx.doi.org/10.1086/323410
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