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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...

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Podrobná bibliografie
Vydáno v:J Clin Immunol
Hlavní autoři: Collins, Cathleen, Sharpe, Emily, Silber, Abigail, Kulke, Sarah, Hsieh, Elena W. Y.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2021
Témata:
On-line přístup: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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