Skip to main content

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Author
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
Journal
:
Journal of medical genetics
Volume
:
52
Issue
:
2
Number of Pages
:
85-94
ISSN Number
:
0022-2593
URL
:
https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=25480986
DOI
:
10.1136/jmedgenet-2014-102856
Short Title
:
J Med Genet
Download citation