Compound heterozygous PNPLA6 mutations cause Boucher–Neuhäuser syndrome with late-onset ataxia
Crossref DOI link: https://doi.org/10.1007/s00415-014-7516-3
Published Online: 2014-09-30
Published Print: 2014-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
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.
Text and Data Mining valid from 2014-09-30