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Autosomal recessive cutis laxa syndrome revisited

The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major diagnostic criteria is to detect abnormal elastin fibers. In several other clinically similar autosomal recessive syndromes, however, the cla...

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Detalhes bibliográficos
Main Authors: Morava, Éva, Guillard, Maïlys, Lefeber, Dirk J, Wevers, Ron A
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986595/
https://ncbi.nlm.nih.gov/pubmed/19401719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.22
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