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FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation

Lookup NU author(s): Sarah Moore, Dr Katherine Johnson, Dr Teresinha Evangelista, Professor Volker Straub


The full text of this item is currently under embargo and cannot be made publicly available until 06/07/2019.

Publication metadata

Author(s): Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, GrahamJr JM, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2018

Volume: 91

Issue: 6

Pages: e562-e570

Print publication date: 07/08/2018

Online publication date: 06/07/2018

Acceptance date: 27/04/2018

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/WNL.0000000000005958


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