Silver-russell syndrome-like features in a patient carrying a novel NF1 mutation
- Author
- WIMMER, Katharina1 ; DECKER, Mathias2 ; MAYATEPEK, Ertan2 ; BEIGLBÖCK, Harald1 ; EGGERMANN, Thomas3 ; KEHRER-SAWATZKI, Hildegard4 ; FONATSCH, Christa1 ; ROSENBAUM, Thorsten2
[1] Department of Human Genetics, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, 1090 Vienna, Austria
[2] Department of General Pediatrics, Heinrich-Heine-University Duesseldorf, 40225 Duesseldorf, Germany
[3] Institute of Human Genetics, RWTH Aachen, 52074 Aachen, Germany
[4] Department of Human Genetics, University of Ulm, 89081 Ulm, Germany - Source
Pediatric research. 2005, Vol 58, Num 6, pp 1265-1268, 4 p ; ref : 25 ref
- CODEN
- PEREBL
- ISSN
- 0031-3998
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génétique Homme Malade Mutation Neurofibromatose Recklinghausen Pédiatrie Gène NF1 Silver-Russell syndrome Maladie héréditaire Peau pathologie Phacomatose Système nerveux pathologie Tumeur bénigne
- Keyword (en)
- Genetics Human Patient Mutation Neurofibromatosis Recklinghausen Pediatrics Silver-Russell syndrome Genetic disease Skin disease Phacomatosis Nervous system diseases Benign neoplasm
- Keyword (es)
- Genética Hombre Enfermo Mutación Neurofibromatosis Recklinghausen Pediatría Enfermedad hereditaria Piel patología Facomatosis Sistema nervioso patología Tumor benigno
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17E Tumors of the nervous system. Phacomatoses
- Discipline
- Generalities in medical sciences Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17303230
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
10.1203/01.pdr.0000183661.81772.f8 
https://dx.doi.org/10.1203/01.pdr.0000183661.81772.f8
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