PTPN11 mutations in LEOPARD syndrome
- Author
- LEGIUS, E1 ; SCHRANDER-STUMPEL, C2 3 ; SCHOLLEN, E1 ; PULLES-HEINTZBERGER, C4 ; GEWILLIG, M5 ; FRYNS, J-P1 3
[1] Centre for Human Genetics, University Hospitals, Leuven, Belgium
[2] Research Institute Growth & Development (GROW), Maastricht University, Maastricht, Netherlands
[3] Departments of Clinical Genetics, Academic Hospital Maastricht, Maastricht, Netherlands
[4] Department of Paediatric Cardiology, Academic Hospital Maastricht, Maastricht, Netherlands
[5] Department of Paediatric Cardiology, University Hospitals, Leuven, Leuven, Belgium - Source
Journal of medical genetics. 2002, Vol 39, Num 8, pp 571-574 ; ref : 16 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diagnostic Déterminisme génétique Etude cas Exploration Gène Homme LEOPARD syndrome Maladie héréditaire Mutation Noonan syndrome Pathogénie Phénotype Appareil circulatoire pathologie Maladie congénitale Oeil pathologie Ostéochondrodysplasie Peau pathologie Syndrome complexe Système nerveux pathologie Système ostéoarticulaire pathologie Trouble développement
- Keyword (en)
- Diagnosis Genetic determinism Case study Exploration Gene Human LEOPARD syndrome Genetic disease Mutation Noonan syndrome Pathogenesis Phenotype Cardiovascular disease Congenital disease Eye disease Osteochondrodysplasia Skin disease Complex syndrome Nervous system diseases Diseases of the osteoarticular system Developmental disorder
- Keyword (es)
- Diagnóstico Determinismo genético Estudio caso Exploración Gen Hombre LEOPARD síndrome Enfermedad hereditaria Mutación Noonan síndrome Patogenia Fenotipo Aparato circulatorio patología Enfermedad congénita Ojo patología Osteocondrodisplasia Piel patología Síndrome complejo Sistema nervioso patología Sistema osteoarticular patología Trastorno desarrollo
- 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
- 13822754
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
10.1136/jmg.39.8.571 
https://dx.doi.org/10.1136/jmg.39.8.571
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