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[Analysis of genetic variants in a patient with Familial hemophagocytic lymphohistiocytosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2023

Zhang Zaihui, Yu Xiurong, Wang Zhihong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a patient with Familial hemophagocytic lymphohistiocytosis (FHL). METHODS: A 35-day-old male infant who was admitted to the Oriental Hospital Affiliated to Xiamen University on August 3, 2021 due to fever for over 7 hours was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband and his parents, and candidate variants were selected...

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PMID: 36854401
DOI: 10.3760/cma.j.cn511374-20220318-00179

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