A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing...
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Main Authors: | , , , , , , , , , , , |
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Format: | Book |
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BMC,
2018-08-01T00:00:00Z.
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A1234.567 |
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