Co-Existent Pseudoxanthoma Elasticum and Vitamin K-Dependent Coagulation Factor Deficiency : Compound Heterozygosity for Mutations in the GGCX Gene

Pseudoxanthoma elasticum (PXE) is a multisystem disorder characterized by ectopic mineralization of connective tissues with primary manifestations in the skin, eyes, and cardiovascular system. The classic forms of PXE are due to mutations in the ABCC6 gene that encodes the ABCC6 protein, a putative...

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Detalhes bibliográficos
Main Authors: Li, Qiaoli, Schurgers, Leon J., Smith, Ann C.M., Tsokos, Maria, Uitto, Jouni, Cowen, Edward W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2009
Assuntos:
Regular Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2630561/
https://ncbi.nlm.nih.gov/pubmed/19116367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2009.080865
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