Immunodeficiency in a Child with Rapadilino Syndrome: A Case Report and Review of the Literature

Rapadilino syndrome is a genetic disease characterized by a characteristic clinical tableau. It is caused by mutations in RECQL4 gene. Immunodeficiency is not described as a classical feature of the disease. We present a 2-year-old girl with Rapadilino syndrome with important lymphadenopathies and p...

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Detaylı Bibliyografya
Yayımlandı:Case Reports Immunol
Asıl Yazarlar: Vollebregt, M. M. G., Malfroot, A., De Raedemaecker, M., van der Burg, M., van der Werff ten Bosch, J. E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi Publishing Corporation 2015
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4438147/
https://ncbi.nlm.nih.gov/pubmed/26064716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/137368
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