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Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history

Crossref DOI link: https://doi.org/10.1038/s10038-024-01291-0

Published Online: 2024-09-03

Published Print: 2025-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Jiang, Huafang https://orcid.org/0000-0002-6632-1793
Xu, Chaolong

Duan, Ruoyu

Liu, Zhimei

Ren, Xiaotun

Li, Jiuwei

Chen, Chunhong

Wang, Hongmei

Han, Tongli

Tian, Xiaojuan

Duan, Xin

Song, Minhan

Li, Tongyue

Fang, Fang https://orcid.org/0000-0001-6362-7896
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Article History

Received: 10 March 2024

Revised: 14 July 2024

Accepted: 15 August 2024

First Online: 3 September 2024

Competing interests

: The authors declare no competing interests.

: All procedures followed were in accordance with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study. This study was approved by the Ethics Committee of Beijing Children’s Hospital (ID: 2017-k-60).

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