Newly identified gene mutation causes severe form of Fanconi anemia
Educatie
Rockefeller University May 11 2025 Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening. But a new study demonstrates that mutations in one particular gene in the Fanconi anemia pathway result in an even more severe form of the disorder-and that many fetuses with this mutation do
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