Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia
- Author
- NIELSEN, Maartje1 ; VERMONT, Clementien L2 ; ATEN, Emmelien1 ; RUIVENKAMP, Claudia A. L1 ; VAN HERREWEGEN, Femke3 ; SANTEN, Gijs W. E1 ; BREUNING, Martijn H1
[1] Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
[2] Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands
[3] Department of Pediatric Hematology, Emma Children's Hospital, Academic Medical Center, Amsterdam, Netherlands - Source
Journal of medical genetics. 2012, Vol 49, Num 9, pp 598-600, 3 p ; ref : 15 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Anémie aplasique Carte génétique Congénital Délétion Gène Génétique Nouveau né Thrombocyte Thrombopénie Aberration chromosomique Homme Hémopathie
- Keyword (en)
- Aplastic anemia Genetic mapping Congenital Deletion Gene Genetics Newborn Platelet Thrombocytopenia Chromosomal aberration Human Hemopathy
- Keyword (es)
- Anemia aplástica Mapa genético Congénito Deleción Gen Genética Recién nacido Trombocito Trombopenia Aberración cromosómica Hombre 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
- Discipline
- Blood diseases Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26355135
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
10.1136/jmedgenet-2012-100990 
https://dx.doi.org/10.1136/jmedgenet-2012-100990
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