Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree

Abstract Background Cellular iron metabolism is essential for maintaining various biological processes in organisms, and this is influenced by the function of iron-responsive element-binding protein 2 (IRP2), encoded by the IREB2 gene. Since 2019, three cases of a genetic neurodegenerative syndrome...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:Orphanet Journal of Rare Diseases
المؤلفون الرئيسيون: Zhenglong Guo, Dawei Huo, Yingying Shao, Wenke Yang, Jinming Wang, Yuwei Zhang, Hai Xiao, Bingtao Hao, Shixiu Liao
التنسيق: مقال
اللغة:الإنجليزية
منشور في: BMC 2024-11-01
الموضوعات:
IREB2
Biallelic variants
Early-onset neurodegeneration
Iron metabolism homeostasis
الوصول للمادة أونلاين:https://doi.org/10.1186/s13023-024-03465-7

الانترنت

https://doi.org/10.1186/s13023-024-03465-7

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