Multisystemic findings of inherited bone marrow failure syndromes may cause difficulty in diagnosis. Exome sequencing (ES) helps to define the etiology of rare diseases and reanalysis offers a valuable new diagnostic approach. Herein, we present the clinical and molecular characteristics of a girl who was referred for cytopenia and frequent infections.

中文翻译：

---

通过对评估血细胞减少和畸形特征的患者的外显子组数据进行重新分析，揭示了一种罕见的遗传性骨髓衰竭综合征。

遗传性骨髓衰竭综合征的多系统表现可能会导致诊断困难。外显子组测序 (ES) 有助于确定罕见疾病的病因，而重新分析则提供了一种有价值的新诊断方法。在此，我们介绍一名因血细胞减少和频繁感染而被转诊的女孩的临床和分子特征。