Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults.
| dc.contributor.author | Schneider, M | |
| dc.contributor.author | Chandler, K | |
| dc.contributor.author | Tischkowitz, M | |
| dc.contributor.author | Meyer, Stefan | |
| dc.date.accessioned | 2015-07-21T10:31:19Z | en |
| dc.date.available | 2015-07-21T10:31:19Z | en |
| dc.date.issued | 2015-07 | en |
| dc.identifier.citation | Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults. 2015, 88 (1):13-24 Clin Genet | en |
| dc.identifier.issn | 1399-0004 | en |
| dc.identifier.pmid | 25307146 | en |
| dc.identifier.doi | 10.1111/cge.12517 | en |
| dc.identifier.uri | http://hdl.handle.net/10541/560765 | en |
| dc.description.abstract | Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. | |
| dc.language.iso | en | en |
| dc.rights | Archived with thanks to Clinical genetics | en |
| dc.title | Fanconi anaemia: genetics, molecular biology, and cancer - implications for clinical management in children and adults. | en |
| dc.type | Article | en |
| dc.contributor.department | Stem Cell and Leukaemia Proteomics Laboratory, University of Manchester, Manchester, UK | en |
| dc.identifier.journal | Clinical Genetics | en |
| html.description.abstract | Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, cross-linker hypersensitivity and extreme cancer predisposition. With better understanding of the genetic and molecular basis of the disease, and improved clinical management, FA has been transformed from a life-limiting paediatric disease to an uncommon chronic condition that needs lifelong multidisciplinary management, and a paradigm condition for the understanding of the gene-environment interaction in the aetiology of congenital anomalies, haematopoiesis and cancer development. Here we review genetic, molecular and clinical aspects of FA, and discuss current controversies and future prospects. |