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Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge Syndrome
BACKGROUND: Thymic hypoplasia/aplasia occurs as a part of DiGeorge Syndrome, which has several known genetic causes, and with loss-of-function mutations in FOXN1. OBJECTIVE: We sought to determine the cause of selective T cell lymphopenia with inverted kappa/lambda ratio in several kindreds. METHODS...
Shranjeno v:
| izdano v: | J Allergy Clin Immunol |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2019
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6949372/ https://ncbi.nlm.nih.gov/pubmed/31600545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2019.09.020 |
| Oznake: |
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