Transcobalamin II Deficiency Can Present without Hematological Manifestations: A Novel TCN2 Gene Variant
Muhammad Matloob Alam, Abdulrhman Alathaibi, Riffat Matloob & Mohammed Ahmed Oshi · Asian Hematology Research Journal · 2022
Transcobalamin II (TC) deficiency is a rare but serious metabolic disorder. It usually presents in the first year of life with failure to thrive, megaloblastic anemia and pancytopenia. Other features includes hypotonia, ataxia, lethargy, vomiting, diarrhea, mucosal ulceration, re...
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