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. 2018 Sep 15:392:1-2.
doi: 10.1016/j.jns.2018.06.016. Epub 2018 Jun 21.

A new PNPLA6 mutation presenting as Oliver McFarlane syndrome

O Patsi  1 , C De Beaufort  2 , P Kerschen  3 , S Cardillo  4 , A Soehn  5 , M Rautenberg  5 , N J Diederich  3
Affiliations

A new PNPLA6 mutation presenting as Oliver McFarlane syndrome

O Patsi et al. J Neurol Sci. .
No abstract available

Keywords: Cerebellar ataxia; Chorioretinal dystrophy; Multiple pituitary deficits; Oliver McFarlane syndrome; PNPLA6 mutation; Polyneuropathy.

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