先天性角化不良：一家系的血液学评估及文献综述
Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature.
作者信息
Trowbridge A A, Sirinavin C, Linman J W
出版信息
Am J Hematol. 1977;3:143-52. doi: 10.1002/ajh.2830030205.
PMID:602933
Abstract
Dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.
摘要
先天性角化不良是一种罕见的遗传性皮肤病，其血液学并发症包括发病时间不一的全血细胞减少、机会性感染倾向和肿瘤形成。本文报告了一个三代中9名成员患该疾病的家族，并回顾了之前报道的46例病例的血液学数据。
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引用本文的文献
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Dyskeratosis congenita.先天性角化不良
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