Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia

PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher–Neuhäuser syndrome. Boucher–Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, hypogonadotropic hypo...

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Publicado en:J Neurol
Main Authors: Deik, A., Johannes, B., Rucker, J. C., Sánchez, E., Brodie, S. E., Deegan, E., Landy, K., Kajiwara, Y., Scelsa, S., Saunders-Pullman, R., Paisán-Ruiz, C.
Formato: Artigo
Idioma:Inglês
Publicado: 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245359/
https://ncbi.nlm.nih.gov/pubmed/25267340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7516-3
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