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- W2120823417 abstract "Evaluation of hereditary axonal neuropathy in childhood is complex. Often, the child has to be subjected to general anaesthesia for a nerve biopsy to guide further genetic testing, which may or may not be readily available. We describe a toddler with clinical features suggesting giant axonal neuropathy (GAN), whose diagnosis was confirmed by minimally invasive skin biopsy and corroborated by the finding of compound heterozygous mutations involving the GAN gene, including a novel interstitial microdeletion at 16q23.2 detected by microarray and a point mutation detected by direct sequencing." @default.
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- W2120823417 date "2014-05-01" @default.
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- W2120823417 title "Giant axonal neuropathy diagnosed on skin biopsy" @default.
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- W2120823417 doi "https://doi.org/10.1016/j.jocn.2013.06.017" @default.
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