Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules

Gamma-glutamyl carboxylase (GGCX) gene mutation causes GGCX syndrome (OMIM: 137167), which is characterized by pseudoxanthoma elasticum (PXE)-like symptoms and coagulation impairment. Here, we present a 55-year-old male with a novel homozygous deletion mutation, c.2,221delT, p.S741LfsX100, in the GG...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Okubo, Yumi, Masuyama, Ritsuko, Iwanaga, Akira, Koike, Yuta, Kuwatsuka, Yutaka, Ogi, Tomoo, Yamamoto, Yosuke, Endo, Yuichiro, Tamura, Hiroshi, Utani, Atsushi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5426700/
https://ncbi.nlm.nih.gov/pubmed/28494010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0177375
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