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

Deik A, Johannes B, Rucker JC, Sanchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisan-Ruiz C. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia. J Neurol. 2014 Sep 30. [Epub ahead of print].