Article
Copy number variation analysis using next-generation sequencing identifies the CFHR3/CFHR1 deletion in atypical hemolytic uremic syndrome: a case report.
Hematology (Amsterdam, Netherlands) - 1 Dec 2022
Park Joonhong, Yhim Ho-Young, Kang Kyung Pyo, Bae Tae Won, Cho Yong Gon
Abstract excerpt
OBJECTIVES: Atypical hemolytic uremic syndrome (aHUS) is characterized by a triad of thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure resulting from platelet thrombi in the microcirculation of the kidney and other organs, in the absence of a preceding diarrheal illness. This report describes a case in which copy number variation (CNV) analysis using next-generation sequencing (NGS)...
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