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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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Crowley, Blaine, Ruffner, Melanie, McDonald McGinn, Donna M., Sullivan, Kathleen E.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha: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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