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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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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2009
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| Soggetti: | |
| Accesso online: | 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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