Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome

Author

SCHULZ, A. L¹ ; ALBRECHT, B² ; KÖNIG, R⁹ ; KRESS, W¹⁰ ; KRÜGER, G¹¹ ; MEINECKE, P¹² ; MÜCKE, J¹³ ; PLECKO, B¹⁴ ; ROSSIER, E¹⁵ ; SCHINZEL, A¹⁶ ; SCHULZE, A¹⁷ ; SEEMANOVA, E¹⁸ ; ARICI, C³ ; SEIDEL, H¹⁹ ; SPRANGER, S²⁰ ; TUYSUZ, B²¹ ; UHRIG, S²² ; WIECZOREK, D² ; KUTSCHE, K¹ ; ZENKER, M²³ ; VAN DER BURGT, I⁴ ; BUSKE, A⁵ ; GILLESSEN-KAESBACH, G² ; HELLER, R⁶ ; HORN, D⁷ ; HÜBNER, C. A¹ ; KORENKE, G. C⁸
[1] Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
[2] Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
[3] Department of General Surgery, Akdeniz University Medical Faculty, Antalya, Turkey
[4] Department of Human Genetics, University Medical Center, St Radboud, Nijmegen, Netherlands
[5] Medizinische Genetik, Berlin, Germany
[6] Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany
[7] Institut für Medizinische Genetik, Universitätsklinikum Charité, Medizinische Fakultät der Humboldt-Universität zu Berlin, Berlin, Germany
[8] Zentrum für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Oldenburg, Oldenburg, Germany
[9] Institute of Human Genetics, University of Frankfurt/Main, Frankfurt/Main, Germany
[10] Institute of Human Genetics, University of Würzburg, Würzburg, Germany
[11] Medizinische Genetik, Kinder-und Jugendklinik, Universität Rostock, Rostock, Germany
[12] Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany
[13] Medizinische Genetik, St Ingbert, Germany
[14] Ambulanz für Neuropädiatrie und angeborene Stoffwechselerkrankungen, Universitätsklinik für Kinder-und Jugendheilkunde, Landeskrankenhaus -Universitätsklinikum Graz, Graz, Austria
[15] Abteilung Humangenetik, Universitätsklinikum Ulm, Ulm, Germany
[16] Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
[17] Department of Paediatrics, Odense University Hospital, Odense, Denmark
[18] Institute of Biology and Medical Genetics, Charles University, University Hospital Prague, Prague, Czech Republic
[19] Institute of Human Genetics, Ludwig-Maximilian University, Munich, Germany
[20] Praxis für Humangenetik, Bremen, Germany
[21] Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
[22] Institut für Humangenetik, Medizinische Universität Graz, Graz, Austria
[23] Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany

Source

Clinical genetics. 2008, Vol 73, Num 1, pp 62-70, 9 p ; ref : 31 ref

CODEN

CLGNAY

ISSN

0009-9163

Scientific domain

Genetics

Publisher

Blackwell, Oxford

Publication country

United Kingdom

Document type

Article

Language

English

Author keyword

B-RAF CFC CS MEK1 MEK2 RAS oncogene

Keyword (fr)

Gène onc Génétique Homme Malade Mutation Phénotype Spectre Cardio facio cutané syndrome Pathologie de l'appareil circulatoire Pathologie de la peau

Keyword (en)

Onc gene Genetics Human Patient Mutation Phenotype Spectrum Cardio facio cutaneous syndrome Cardiovascular disease Skin disease

Keyword (es)

Gen onc Genética Hombre Enfermo Mutación Fenotipo Espectro Aparato circulatorio patología Piel patología

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling

Discipline

Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

19979799

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