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Updated: May 6, 2026

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精确诊断遗传球球细胞病患者的复杂的血液学表型

Guanxia Liang1, Zezhang Lin1, Yang Zhang2

  • 1Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.

Molecular genetics and genomics : MGG
|May 24, 2024
PubMed
概括

遗传球细胞瘤 (HS) 诊断可能具有挑战性. 整体外基因组测序发现了罕见的基因突变,解释了患者复杂的HS症状,有助于精确的诊断和治疗.

关键词:
这就是SPTBTB的原因.复杂的表型复杂的表型遗传性球球细胞分裂.寡生性遗传的遗传方式

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