New clinical features of Fanconi anemia
10.3760/cma.j.issn.1673-4408.2010.05.016
- VernacularTitle:范可尼贫血临床特征的新认识
- Author:
Yanke YIN
- Publication Type:Journal Article
- Keywords:
Fanconi anemia;
Genotype;
Phenotype;
Mosaicism
- From:
International Journal of Pediatrics
2010;37(5):490-493
- CountryChina
- Language:Chinese
-
Abstract:
Fanconi anemia performs (FA) great clinical heterogeneity. Although the identification of FA related genes extends the recognition of FA pathogenesis, few stringent genotype-phenotype connections have emerged. For the same FA genotype patients, it seems that type of mutation influences clinical phenotype more importantly, Modifier genes,environmental factor, can also result in obviously different clinical phenotype. Different from multiple genotypes and multiple clinical phenotypes, FA cellular phenotype is characteristic, and is the most important basis of diagnosis.
