The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

Article

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

Pediatrics - 1 Jun 1993

Giampietro P F, Adler-Brecher B, Verlander P C, Pavlakis S G, Davis J G, Auerbach A D

Abstract excerpt

OBJECTIVE: The objective of this study was to address the need for early diagnosis of Fanconi anemia (FA), an autosomal recessive chromosomal instability syndrome characterized by a unique cellular hypersensitivity to DNA cross-linking agents, such as diepoxybutane, and by a high risk of malignan...

Topics

Child
Fanconi Anemia
Humans
Infant
Phenotype
Registries

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