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[Clinical features and gene mutations of children with Shwachman-Diamond syndrome and malignant myeloid transformation].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 May 2020

An Wen-Bin, Liu Chao, Wan Yang, Chang Li-Xian, Chen Xiao-Yan, Zhu Xiao-Fan

Abstract excerpt

OBJECTIVE: To study the clinical features and genetic mutations of children with Shwachman-Diamond syndrome (SDS) and malignant myeloid transformation. METHODS: Next-generation sequencing was used to analyze the gene mutations in 11 SDS children with malignant myeloid transformation, and their clinical features and genetic mutations were analyzed. RESULTS: Of the 11 children with SDS, 9 (82%) presented with...

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PMID: 32434641
PMCID: PMC7389397

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