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

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. CASE PRE...

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Detalles Bibliográficos
Autores principales:	Oszer, Aleksandra, Bąbol-Pokora, Katarzyna, Kołtan, Sylwia, Pastorczak, Agata, Młynarski, Wojciech
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8591925/ https://www.ncbi.nlm.nih.gov/pubmed/34781974 http://dx.doi.org/10.1186/s13039-021-00571-0

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