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[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2022

Xin Hongmei, Zhao Jianshe, Lyu Yuqiang, Yang Yanan, Li Zilong, Gai Zhongtao, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome). METHODS: Clinical and laboratory examinations were carried out for the patient. Next-generation sequencing (NGS) was used to detect potential variant associated with the disease. Candidate variant was verified by Sanger sequencing of...

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Infant

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PMID: 35315044
DOI: 10.3760/cma.j.cn511374-20210315-00225

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[Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].PMID 35315044Read ↗

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