A novel mutation in the SDHD gene in a family with inherited paragangliomas-implications of genetic diagnosis for follow up and treatment
- Author
- RENARD, Laurette1 ; GODFRAIND, Catherine2 ; BOON, Laurence M3 4 ; VIKKULA, Miikka4
[1] Department of Radiation Oncology, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium
[2] Laboratory of Neuropathology, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium
[3] Division of Plastic Surgery, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium
[4] Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 74+5, bp. 75.39, 1200 Brussels, Belgium - Source
Head & neck. 2003, Vol 25, Num 2, pp 146-151, 6 p ; ref : 28 ref
- ISSN
- 1043-3074
- Scientific domain
- Otorhinolaryngology, stomatology, dentistry
- Publisher
- John Wiley & Sons, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- familial genetic paraganglioma pheochromocytoma screening
- Keyword (fr)
- Adulte jeune Contrôle Diagnostic Dépistage Etude cas Etude familiale Femelle Gène Génétique Maladie héréditaire Mutation Paragangliome Traitement Gène SDHD Homme Système nerveux autonome pathologie Système nerveux pathologie Tumeur
- Keyword (en)
- Young adult Check Diagnosis Medical screening Case study Family study Female Gene Genetics Genetic disease Mutation Paraganglioma Treatment Human Diseases of the autonomic nervous system Nervous system diseases Tumor
- Keyword (es)
- Adulto joven Control Diagnóstico Descubrimiento Estudio caso Estudio familiar Hembra Gen Genética Enfermedad hereditaria Mutación Paraganglioma Tratamiento Hombre Sistema nervioso autónomo patología Sistema nervioso patología Tumor
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10A Otorhinolaryngology (head neck, general aspects and miscellaneous) / 002B10A01 Tumors
- Discipline
- Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14478553
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/hed.10220 
https://dx.doi.org/10.1002/hed.10220
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