Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
- Author
- REARDON, W1 ; WILKES, D2 ; NEVIN, N. C6 ; BARAITSER, M1 ; WINTER, R. M1 ; RUTLAND, P2 ; PULLEYN, L. J2 ; MALCOLM, S2 ; DEAN, J. C. S3 ; EVANS, R. D4 ; JONES, B. M4 ; HAYWARD, R4 ; HALL, C. M5
[1] Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
[2] Molecular Genetics Unit, Institute of Child Health, London WC1N 1EH, United Kingdom
[3] Department of Medical Genetics, Medical School, Foresterhill, Aberdeen AB9 2ZD, United Kingdom
[4] Craniofacial Unit, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom
[5] Department of Radiology, Great Ormond Street Hospital for Children, London WC1N 3JH, United Kingdom
[6] Department of Medical Genetics, Belfast City Hospital, Belfast BT9 7AB, United Kingdom - Source
Journal of medical genetics. 1997, Vol 34, Num 8, pp 632-636 ; ref : 34 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Crâniosynostose Déterminisme génétique Facteur croissance fibroblaste Gène Homme Mutation Crâne pathologie Dysostose Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Craniosynostosis Genetic inheritance Fibroblast growth factor Gene Human Mutation Skull disease Dysostosis Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Craneosinóstosis Determinismo genético Factor crecimiento fibroblasto Gen Hombre Mutación Cráneo patología Disostosis Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2780499
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.34.8.632 
https://dx.doi.org/10.1136/jmg.34.8.632
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