Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes | Zendy

Robert B. Hufnagel | Zendy; Gavin Arno | Zendy; Nichole D. Hein | Zendy; Joshua Hersheson | Zendy; Megana Prasad | Zendy; Yvonne C. Anderson | Zendy; Laura A. Krueger | Zendy; Louise Gregory | Zendy; Corinne Stoetzel | Zendy; Thomas Jaworek | Zendy; Sarah Hull | Zendy; Abi Li | Zendy; Vincent Plagnol | Zendy; Christi M. Willen | Zendy; Thomas M. Morgan | Zendy; Cynthia A. Prows | Zendy; Rashmi S. Hegde | Zendy; Saima Riazuddin | Zendy; Gregory A. Grabowski | Zendy; Rudy J. Richardson | Zendy; Klaus Dieterich | Zendy; Taosheng Huang | Zendy; Tamás Révész | Zendy; Juan Pedro Martı́nez-Barberá | Zendy; Robert A. Sisk | Zendy; Craig Jefferies | Zendy; Henry Houlden | Zendy; Mehul Dattani | Zendy; John K. Fink | Zendy; Hélène Dollfus | Zendy; Anthony T. Moore | Zendy; Zubair M. Ahmed | Zendy

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Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

Author(s) -

Robert B. Hufnagel,

Gavin Arno,

Nichole D. Hein,

Joshua Hersheson,

Megana Prasad,

Yvonne C. Anderson,

Laura A. Krueger,

Louise Gregory,

Corinne Stoetzel,

Thomas Jaworek,

Sarah Hull,

Abi Li,

Vincent Plagnol,

Christi M. Willen,

Thomas M. Morgan,

Cynthia A. Prows,

Rashmi S. Hegde,

Saima Riazuddin,

Gregory A. Grabowski,

Rudy J. Richardson,

Klaus Dieterich,

Taosheng Huang,

Tamás Révész,

Juan Pedro Martı́nez-Barberá,

Robert A. Sisk,

Craig Jefferies,

Henry Houlden,

Mehul Dattani,

John K. Fink,

Hélène Dollfus,

Anthony T. Moore,

Zubair M. Ahmed

Publication year - 2014

Publication title -

journal of medical genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.439

H-Index - 170

eISSN - 1468-6244

pISSN - 0022-2593

DOI - 10.1136/jmedgenet-2014-102856

Subject(s) - biology , ataxia , hereditary spastic paraplegia , zebrafish , retinal degeneration , genetics , pathology , phenotype , gene , neuroscience , medicine

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.

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