New clinical features of Fanconi anemia / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 490-493, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-387313
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Prognostic study
Language:
Chinese
Journal:
International Journal of Pediatrics
Year:
2010
Type:
Article
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