Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novelPANK2gene mutation
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference8 articles.
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5. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation;Hartig;Ann Neurol,2006
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1. Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review;Frontiers in Neurology;2023-04-28
2. Case report: Novel compound heterozygous variants in the PANK2 gene in a Chinese patient diagnosed with ASD and ADHD;Frontiers in Neurology;2023-04-17
3. 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;2020-10-14
4. Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature;Neurocase;2020-04-20
5. Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans;Molecular Genetics and Metabolism;2019-12
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