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Original Articles

Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

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Pages 1109-1113 | Received 05 Jul 2017, Accepted 26 May 2018, Published online: 15 Aug 2018

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Read on this site (2)

Fan Yang, Juan Wang, Ze Yang, Zhaorui Ren & Fanyi Zeng. (2022) PANK2 p.A170fs:a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family. International Journal of Neuroscience 132:6, pages 582-588.
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Articles from other publishers (2)

Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang & Xiangjun Chen. (2023) Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD. Frontiers in Neurology 14.
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Luz María González Huerta, Sorina Gómez González & Jaime Toral López. (2021) Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome. Psychiatric Genetics 31:3, pages 95-99.
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