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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha: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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