Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene
- Author
- TSENG, Yu-Ru1 ; SU, Yi-Ning2 ; LU, Frank Leigh1 ; JENG, Suh-Fang3 ; HSICH, Wu-Shiun1 ; CHEN, Chien-Yi1 ; CHOU, Hung-Chieh1 ; PENG, Steven Shinn-Forng4
[1] Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, Province of China
[2] Graduate Institute of Clinical Medicine, National Taiwan University College of Medicine, and Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, Province of China
[3] School and Graduate Institute of Physical Therapy, National Taiwan University College of Medicine, Taipei, Taiwan, Province of China
[4] Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, Province of China - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 9, pp 1012-1014, 3 p ; ref : 1/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Agénésie poumon De novo Droit Gène Holt Oram syndrome Mutation Appareil circulatoire pathologie Appareil respiratoire pathologie Cardiopathie Dysostose Maladie congénitale Maladie héréditaire Malformation Poumon pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Lung agenesis De novo Right Gene Holt Oram syndrome Mutation Cardiovascular disease Respiratory disease Heart disease Dysostosis Congenital disease Genetic disease Malformation Lung disease Diseases of the osteoarticular system
- Keyword (es)
- Agenesia pulmón De novo Derecho Gen Holt-Oram síndrome Mutación Aparato circulatorio patología Aparato respiratorio patología Cardiopatía Disostosis Enfermedad congénita Enfermedad hereditaria Malformación Pulmón patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B11 Pneumology / 002B11D Respiratory system : syndromes and miscellaneous diseases
- 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
- Discipline
- Medical genetics Osteoarticular pathology Pulmonology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18735581
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
10.1002/ajmg.a.31672 
https://dx.doi.org/10.1002/ajmg.a.31672
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