Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
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Abstract | :
Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause. |
Year of Publication | :
2015
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Journal | :
Journal of medical genetics
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Volume | :
52
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Issue | :
2
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Number of Pages | :
85-94
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ISSN Number | :
0022-2593
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URL | :
https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=25480986
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DOI | :
10.1136/jmedgenet-2014-102856
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Short Title | :
J Med Genet
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