Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Patients with cutis laxa (CL) have wrinkled, sagging skin with decreased elasticity. Skin symptoms are associated with variable systemic involvement. The most common, genetically highly heterogeneous form of autosomal recessive CL, ARCL2, is frequently associated with variable metabolic and neurolog...

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Main Authors: Gardeitchik, Thatjana, Mohamed, Miski, Fischer, Björn, Lammens, Martin, Lefeber, Dirk, Lace, Baiba, Parker, Michael, Kim, Ki-Joong, Lim, Bing C, Häberle, Johannes, Garavelli, Livia, Jagadeesh, Sujatha, Kariminejad, Ariana, Guerra, Deanna, Leão, Michel, Keski-Filppula, Riikka, Brunner, Han, Nijtmans, Leo, van den Heuvel, Bert, Wevers, Ron, Kornak, Uwe, Morava, Eva
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Publishing Group 2014
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Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060105/
https://ncbi.nlm.nih.gov/pubmed/23963297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.154
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