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

doi:10.1136/jmedgenet-2014-102856

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Article

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

Journal of medical genetics - 1 Feb 2015

Hufnagel Robert B, Arno Gavin, Hein Nichole D, Hersheson Joshua, Prasad Megana, Anderson Yvonne, Krueger Laura A, Gregory Louise C, Stoetzel Corinne, Jaworek Thomas J, Hull Sarah, Li Abi, Plagnol Vincent, Willen Christi M, Morgan Thomas M, Prows Cynthia A, Hegde Rashmi S, Riazuddin Saima, Grabowski Gregory A, Richardson Rudy J, Dieterich Klaus, Huang Taosheng, Revesz Tamas, Martinez-Barbera J P, Sisk Robert A, Jefferies Craig, Houlden Henry, Dattani Mehul T, Fink John K, Dollfus Helene, Moore Anthony T, Ahmed Zubair M

Abstract excerpt

BACKGROUND: 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. METHODS: Whole-exome sequencing was performed to identify the...

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Identifiers

PMID: 25480986
DOI: 10.1136/jmedgenet-2014-102856
PMCID: PMC8108008

Genes

PNPLA6

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