Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia

Abstract Background Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early childhood and antibiotic prophylaxis applied with additional vaccinations....

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Aleksandra Oszer, Katarzyna Bąbol-Pokora, Sylwia Kołtan, Agata Pastorczak, Wojciech Młynarski
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
ICA
Acceso en línea:https://doaj.org/article/9741c56b835f4cb7afe363dee7562643
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!