Article

Case report: De novo TINF2 mutation-induced dyskeratosis congenita with bone marrow failure in China

2025-07-21

Abstract excerpt

This study reported a male patient who initially manifested bone marrow failure and was misdiagnosed with acquired aplastic anemia at the age of 4 years old. Oral administration of cyclosporin and glucocorticoid was ineffective, and myelosuppression worsened. At 7 years old, the patient presented the classical triad of reticulate skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by bone marrow f...

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Literature Corpus work: 11728f0c-be3a-544f-a397-b85ce04479c2
DOI: 10.22541/au.175309043.35662929/v1

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