A novel mutation in RASA1 causes capillary malformation and limb enlargement
- Author
- HERSHKOVITZ, Dov1 2 3 ; BERGMAN, Reuven1 2 ; SPRECHER, Eli2
[1] Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Health Care Campus, POB 9602, 31096 Haifa, Israel
[2] Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel
[3] Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Technion, Israel Institute of Technology, Haifa, Israel - Source
Archives of dermatological research (Print). 2008, Vol 300, Num 7, pp 385-388, 4 p ; ref : 18 ref
- CODEN
- ADREDL
- ISSN
- 0340-3696
- Scientific domain
- Dermatology
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Capillary malformation Klippel-Trenaunay syndrome Parkes Weber syndrome RASA1
- Keyword (fr)
- Angiodysplasie ostéodystrophique de Klippel-Trenaunay Dermatologie Génétique Malformation Membre Mutation Angiome Pathologie de l'appareil circulatoire Pathologie de la peau Pathologie des vaisseaux sanguins Pathologie du système ostéoarticulaire
- Keyword (en)
- Klippel Trenaunay angiodysplasia(syndrome) Dermatology Genetics Malformation Limb Mutation Angioma Cardiovascular disease Skin disease Vascular disease Diseases of the osteoarticular system
- Keyword (es)
- Angiodisplasia Klippel Trenaunay Dermatología Genética Malformación Miembro Mutación Angioma Aparato circulatorio patología Piel patología Vaso sanguíneo patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08B Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
- Discipline
- Dermatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20577869
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
10.1007/s00403-008-0842-5 
https://dx.doi.org/10.1007/s00403-008-0842-5
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