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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Am J Med Genet A |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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