Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome

PurposeTo investigate the clinical features and genetic mutation spectrum of 18 children with Shwachman-Diamond syndrome (SDS).MethodsData from 18 children with SDS at Shandong University Affiliated Children’s Hospital (Ji’nan Children’s Hospital) between April 2016 and June 2024 were retrospectivel...

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Main Authors: Ruoying Wei, Kaihui Zhang, Chen Liu, Xuxia Wei, Qin Jiang, Ji-an Li, Meiling Huo, Yinggang Liu, Mohnad Abdalla, Li-an Du, Xiaomei Yang, Fu Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Genetics
Subjects:
Shwachman-Diamond syndrome
child
SBDS gene
myelodysplastic syndrome
bone marrow failure disorders
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1603782/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1603782/full

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