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Genotypic and phenotypic character of Chinese neonates with congenital protein C deficiency: a case report and literature review

BACKGROUND: Our objective was to study the phenotype of and molecular genetic mechanisms underlying congenital protein C (PC) deficiency in Chinese neonates. We report the case of a neonate who presented 4 h after birth with purpura fulminans of the skin and thrombosis in the kidney. We also carried...

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Detalles Bibliográficos
Autores principales: Li, Xiaoying, Li, Xiaoyan, Li, Xiao, Zhuang, Yuanhua, Kang, Lili, Ju, Xiuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6774216/
https://www.ncbi.nlm.nih.gov/pubmed/31592240
http://dx.doi.org/10.1186/s12959-019-0208-6