Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
- Author
- KLOPOCKI, Eva1 ; SCHULZE, Harald2 ; HABENICHT, Rolf7 ; KÖNIG, Rainer8 ; SEEMANOVA, Eva9 ; MEGARBANE, André10 ; ROPERS, Hans-Hilger11 ; ULLMANN, Reinhard11 ; HORN, Denise1 ; MUNDLOS, Stefan1 11 ; STRAUSS, Gabriele2 ; OTT, Claus-Eric1 ; HALL, Judith3 ; TROTIER, Fabienne1 ; FLEISCHHAUER, Silke2 ; GREENHALGH, Lynn4 ; NEWBURY-ECOB, Ruth A5 ; NEUMANN, Luitgard M6
[1] Institut für Medizinische Genetik, Berlin, Germany
[2] Klinik für Allgemeine Pädiatrie, Berlin, Germany
[3] University of British Columbia, Vancouver, Canada
[4] Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, United Kingdom
[5] Clinical Genetics, Bristol Royal Hospital for Children, Bristol, United Kingdom
[6] Institut für Humangenetik, Berlin, Germany
[7] Kinderkrankenhaus Wilhelmstift, Hamburg, Germany
[8] Institut für Humangenetik, Universitätsklinikum Frankfurt, Frankfurt, Germany
[9] Institute for Biology and Medical Genetics, Charles University, Prague, Czech Republic
[10] Service de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon
[11] Charité Universitatsmedizin Berlin, and Max Planck Institut für Molekulare Genetik, Berlin, Germany - Source
American journal of human genetics. 2007, Vol 80, Num 2, pp 232-240, 9 p ; ref : 41 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère autosomique Caractère récessif Génétique Homme Héritage Hérédité Maladie héréditaire Polygénique Radius Syndrome Thrombocyte Thrombopénie Microdélétion Hémopathie
- Keyword (en)
- Autosomal character Recessive character Genetics Human Inheritance Inheritance(genetics) Genetic disease Polygenic Radius Syndrome Platelet Thrombocytopenia Microdeletion Hemopathy
- Keyword (es)
- Carácter autosómico Carácter recesivo Genética Hombre Herencia Herencia(genética) Enfermedad hereditaria Poligénico Radio Síndrome Trombocito Trombopenia Microdeletion Hemopatía
- 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 / 002B19 Hematologic and hematopoietic diseases / 002B19C Platelet diseases and coagulopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Blood diseases Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18479274
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
10.1086/510919 
https://dx.doi.org/10.1086/510919
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