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作者研究了两个无血缘关系的家族,发现一种以迟发的骨髓衰竭和常染色体显性遗传的尺、挠骨近端融合为特征的新的综合征。A 家族系英国人,其先证者为31岁妇女,因产后出血后发生严重的血小板减少和大红细胞增多症而就医。当时骨髓象显示巨
The authors studied two unrelated families and found a new syndrome characterized by late-onset bone marrow failure and autosomal dominant ruler and proximal radius fusion. A family of British, whose proband was a 31-year-old woman who was hospitalized for severe thrombocytopenia and polycythemia following postpartum hemorrhage. At that time bone marrow showed giant