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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Detalles Bibliográficos
Autores principales: Collins, Cathleen, Sharpe, Emily, Silber, Abigail, Kulke, Sarah, Hsieh, Elena W. Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
CME Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249278/
https://www.ncbi.nlm.nih.gov/pubmed/33987750
http://dx.doi.org/10.1007/s10875-021-01059-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249278/
https://www.ncbi.nlm.nih.gov/pubmed/33987750
http://dx.doi.org/10.1007/s10875-021-01059-7

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