New clinical features of Fanconi anemia / 国际儿科学杂志
International Journal of Pediatrics
;
(6): 490-493, 2010.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo prognóstico
Idioma:
Chinês
Revista:
International Journal of Pediatrics
Ano de publicação:
2010
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS