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    Novel Adenosine Deaminase 2 (ADA2) Mutations Associated With Hematological Manifestations oleh Reem Albalawi MSc, Ehab Hanafy MD, Haifa Alnafea PhD, Mohammed Altowijiry MD, Shaima Riyad MD, Fadwa Abufara MD, Naif Albolowi MD

    Diterbitkan 2021-11-01
    "…We report 2 patients who presented with hematologic abnormalities in which 2 ADA2 gene mutations were detected. The first case is a 5-year-old girl who presented with severe PRCA and autoimmune hemolytic anemia without any other manifestation of DADA2 that resulted from a novel CECR1 c.714_738dup, p. …"
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