Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
- Author
- JABS, E. W1 ; XIANG LI1 ; SCOTT, A. F1 ; MEYERS, G1 ; CHEN, W1 ; ECCLES, M; JEN-I MAO; CHARNAS, L. R; JACKSON, C. E; JAYE, M
[1] Johns Hopkins school medicine, dep. pediatrics, Baltimore MD 21287-3914, United States - Source
Nature genetics. 1994, Vol 8, Num 3, pp 275-279 ; ref : 21 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Allélisme Dysostose crâniofaciale Crouzon Face Facteur croissance fibroblaste Génétique Homme Mutation Récepteur biologique Gène FGFR2 Jackson Weiss syndrome Maladie héréditaire Malformation Système ostéoarticulaire pathologie
- Keyword (en)
- Allelism Crouzon disease Face Fibroblast growth factor Genetics Human Mutation Biological receptor Jackson Weiss syndrome Genetic disease Malformation Diseases of the osteoarticular system
- Keyword (es)
- Alelismo Disostosis craneofacial Crouzón Cara Factor crecimiento fibroblasto Genética Hombre Mutación Receptor biológico Enfermedad hereditaria Malformación Sistema osteoarticular patología
- Classification
- 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
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3298463
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/ng1194-275 
https://dx.doi.org/10.1038/ng1194-275
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