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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer US
2021
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| Materias: | |
| 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 |