Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia
Fanconi anemia (FA) is an inherited bone marrow failure and cancer predisposition disorder due to mutations in DNA repair pathways proteins (FANC). The dysfunctional proteins are unable to repair DNA breaks and cause genomic instability. Mutations in many of the 19 FANC genes are well characterized...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2019-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |