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[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].

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

Wang Dong, Huang Jing, Zhang Kaihui, Lyu Yuqing, Gao Min, Ma Jian, Wan Ya, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a patient with Hermansky-Pudlak syndrome type 5 (HPS-5). METHODS: A child with HPS-5 who had attended the Children's Hospital Affiliated to Shandong University on October 3, 2019 was selected as the study subject. Clinical data of the child were collected. Genetic variant was analyzed through high-throughput sequencing. A literature review was also...

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PMID: 37906148
DOI: 10.3760/cma.j.cn511374-20211101-00868

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