Publication
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa
Thatjana Gardeitchik, Miski Mohamed, Björn Fischer, Martin Lammens, Dirk Lefeber, Baiba Lace, Michael Parker, Ki-Joong Kim, Bing C Lim, Johannes Häberle, Livia Garavelli, Sujatha Jagadeesh, Ariana Kariminejad, Deanna Guerra, Michel Leão, Riikka Keski-Filppula, Han Brunner, Leo Nijtmans, Bert van den Heuvel, Ron Wevers, Uwe Kornak, Eva Morava
European Journal of Human Genetics, August 2013, Springer Science + Business Media
DOI: 10.1038/ejhg.2013.154