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Journal Article
Basmanav, F. Buket, Fritz, Guenter 
ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette ORCID: 0000-0002-3004-0180 and Betz, Regina C.
(2015).
Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura.
J. Invest. Dermatol., 135 (2).
S. 615 - 619.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1523-1747
Unger, Andreas, Dekomien, Gabriele, Guettsches, Anne, Dreps, Thomas, Kley, Rudolf, Tegenthoff, Martin, Ferbert, Andreas, Weis, Joachim, Heyer, Christoph, Linke, Wolfgang A., Martinez-Carrera, Lilian, Storbeck, Markus, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Hoffjan, Sabine and Vorgerd, Matthias
(2016).
Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.
Neurology, 87 (21).
S. 2235 - 2244.
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1526-632X