Associated Papers
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.
Wong EWN et al.
Ophthalmic Genetics, 2023
Novel PANK2 Mutations in Patients With Pantothenate Kinase-Associated Neurodegeneration and the Genotype-Phenotype Correlation.
Li WB et al.
Frontiers in Aging Neuroscience, 2022
Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.
Akcakaya NH et al.
Clinical Neurology and Neurosurgery, 2017
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