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Congenital Athymia: Genetic Etiologies, Clinical Manifestations, Diagnosis, and Treatment

Congenital athymia is an ultra-rare disease characterized by the absence of a functioning thymus. It is associated with several genetic and syndromic disorders including FOXN1 deficiency, 22q11.2 deletion, CHARGE Syndrome (Coloboma, Heart defects, Atresia of the nasal choanae, Retardation of growth...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Immunol
Päätekijät: Collins, Cathleen, Sharpe, Emily, Silber, Abigail, Kulke, Sarah, Hsieh, Elena W. Y.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer US 2021
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8249278/
https://ncbi.nlm.nih.gov/pubmed/33987750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-021-01059-7
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