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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

CODEN
JMDGAE
ISSN
0022-2593
Scientific domain
Genetics
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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