婴儿携带 突变致血小板增多症：病例报告。
Thrombocytosis in an infant with a mutation: a case report.
机构信息
Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
出版信息
Platelets. 2021 Apr 3;32(3):429-431. doi: 10.1080/09537104.2020.1755644. Epub 2020 Apr 22.
Abstract
Mutations in the calcium channel gene () cause autosomal dominant skeletal dysplasia, with phenotypes ranging from mild to perinatal lethality. A recent report detailed enhanced proplatelet formation and increased murine platelet count in the context of activation. No prior reports have described platelet count abnormalities in human disease. Here, we report a case of prolonged thrombocytosis in the context of -associated metatropic dysplasia that was lethal in the infantile period.
摘要
钙通道基因 () 突变导致常染色体显性骨骼发育不良，表型从轻度到围产期致死不等。最近的一份报告详细描述了 在激活的情况下增强了前血小板的形成和增加了小鼠血小板计数。以前没有报告描述过人类 疾病中的血小板计数异常。在这里，我们报告了一例与 - 相关的变形性骨发育不良相关的持续性血小板增多症的病例，该病例在婴儿期致死。
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