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1 article for “schwachman – diamond syndrome (SDS)”
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An Overview of Fanconi Anemia: A Genetic Disorder
Abstract: Fanconi Anemia (FA) is a rare genetic disorder caused by DNA repair defects due to pathogenic variants in one of 21 genes. It is the primary cause of inherited bone marrow failure, marked by pancytopenia. Clinically, Fanconi Anemia (FA) is associated with congenital malformations in multiple systems, resulting in progressive bone marrow failure and heightened cancer risk, especially in the urogenital region and the head and neck. There are approximately …
Published in International Journal of Oncological Nursing and Practices · Vol. 2, Issue 2, 2024 · pp. 19–25 Read article