Article
Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.
The Pan African medical journal - 1 Jan 2021
Doubaj Yassamine, Zrhidri Abdelali, Elalaoui Siham Chafai, Lyahyai Jaber, El Kadiri Youssef, Elkassimi Nadia, Sbiti Aziza, El Kababri Maria, Hessissen Laila, Sefiani Abdelaziz
Abstract excerpt
INTRODUCTION: Fanconi anemia (FA) is a rare inherited hematological disease due to a defect in the DNA repair pathway resulting in congenital abnormalities and high susceptibility to develop cancers. The cytogenetic analysis using alkylating agents is still a reference test to establish the diagnosis. Despite the genetic heterogeneity, the identification of the causal mutation is actually performed especially...
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