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...

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Publicat a:J Allergy Clin Immunol
Autors principals: Bernstock, Joshua D., Totten, Arthur H., Elkahloun, Abdel G., Johnson, Kory R., Hurst, Anna C., Goldman, Frederick, Groves, Andrew K., Mikhail, Fady M., Atkinson, T. Prescott
Format: Artigo
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia: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
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