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Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

The clinical features of 22q11.2 deletion syndrome include virtually every organ of the body. This review will focus on the immune system and the differences related to deletion breakpoints. A hypoplastic thymus was one of the first features described in this syndrome and low T cell counts, as a con...

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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Crowley, Blaine, Ruffner, Melanie, McDonald McGinn, Donna M., Sullivan, Kathleen E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6470357/
https://ncbi.nlm.nih.gov/pubmed/29341423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38597
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