Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome
- Author
- ION, Andra1 ; TARTAGLIA, Marco2 3 ; SOMER, Mirja8 ; PARENTI, Giancarlo9 ; CROSBY, Andrew H1 ; PATTON, Michael A1 ; GELB, Bruce D10 2 ; JEFFERY, Steve1 ; XIAOLING SONG2 ; KALIDAS, Kamini1 ; VAN DER BURGT, Ineke4 ; SHAW, Adam C1 ; MING, Jeffrey E5 ; ZAMPINO, Giuseppe6 ; ZACKAI, Elaine H5 ; DEAN, John C. S7
[1] Department of Medical Genetics, St. George's Medical School, Cranmer Terrace, London SW17ORE, United Kingdom
[2] Department of Pediatrics, Mount Sinai School of Medicine, New York, United States
[3] Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Rome, Italy
[4] Department of Human Genetics, University Medical Centre, Nijmegen, Netherlands
[5] Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, United States
[6] Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy
[7] Medical Genetics, Polwarth Building, Medical School, Foresterhill, Aberdeen AB9 2ZD, United Kingdom
[8] Department of Clinical Genetics, Helsinki University Central Hospital, P.O. Box 140, 00029 HUS, Finland
[9] Department of Pediatrics, Federico II University, Naples, Italy
[10] Department of Human Genetics, Mount Sinai School of Medicine, New York, United States - Source
Human genetics. 2002, Vol 111, Num 4-5, pp 421-427 ; ref : 20 ref
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Berlin
/
Springer, Heidelberg
/
Springer, New York, NY
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cardiocutané syndrome Délétion Gène Génétique Homme Mutation Noonan syndrome Syndrome Gène PTPN11 Appareil circulatoire pathologie Maladie héréditaire Ostéochondrodysplasie Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Cardiocutaneous syndrome Deletion Gene Genetics Human Mutation Noonan syndrome Syndrome Cardiovascular disease Genetic disease Osteochondrodysplasia Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Cardiocutáneo síndrome Deleción Gen Genética Hombre Mutación Noonan síndrome Síndrome Aparato circulatorio patología Enfermedad hereditaria Osteocondrodisplasia Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13983669
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/s00439-002-0803-6 
https://dx.doi.org/10.1007/s00439-002-0803-6
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