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

Internet

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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