A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Pre...

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Detalles Bibliográficos
Autores principales: Baothman, Abdullah A., AlSobhi, Enaam, Khayat, Hassan A., Alsulami, Raed E., Alkahtani, Abdulaziz S., Al‐Thobyani, Abdelraheem A., Marzouk, Yousef I., Abdelaal, Mohammad A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331256/
https://www.ncbi.nlm.nih.gov/pubmed/28265398
http://dx.doi.org/10.1002/ccr3.699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331256/
https://www.ncbi.nlm.nih.gov/pubmed/28265398
http://dx.doi.org/10.1002/ccr3.699

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