Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-like Phenotypes

A characteristic feature of classic PXE, an autosomal recessive disorder caused by mutations in the ABCC6 gene, is aberrant mineralization of connective tissues, particularly the elastic fibers. Here, we report a family with PXE-like cutaneous features in association with multiple coagulation factor...

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Главные авторы: Li, Qiaoli, Grange, Dorothy K., Armstrong, Nicole L., Whelan, Alison J., Hurley, M. Yadira, Rishavy, Mark, Hallgren, Kevin, Berkner, Kathleen L., Schurgers, Leon J., Jiang, Qiujie, Uitto, Jouni
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900916/
https://ncbi.nlm.nih.gov/pubmed/18800149
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2008.271
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